http://identifiers.org/exac.variant/11-113103872-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103872
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103872
    reference: chr 11
allele count: 1
allele frequency: 8.521807304893222e-6
allele num: 117346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.1965C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.1942C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22727C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1741C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1629C>A
  hgvsp: ENSP00000474891.1:p.Thr544Asn
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1142C>A
  hgvsp: ENSP00000473281.1:p.Thr381Asn
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.131C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1523C>A
  hgvsp: ENSP00000384055.2:p.Thr508Asn
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1496C>A
  hgvsp: ENSP00000318472.7:p.Thr499Asn
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.7C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.24C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.26C>A
  hgvsp: ENSP00000475074.1:p.Thr9Asn
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1673C>A
  hgvsp: ENSP00000474028.1:p.Thr558Asn
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.194C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1737C>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr558Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

11-113103891-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103891
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103891
    reference: chr 11
allele count: 1
allele frequency: 8.380122349786308e-6
allele num: 119330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1161C>T
  hgvsp: ENST00000533760.1:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22708C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.43C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.45C>T
  hgvsp: ENST00000531817.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.213C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1756C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.26C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1515C>T
  hgvsp: ENST00000316851.7:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1692C>T
  hgvsp: ENST00000524665.1:c.1692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1648C>T
  hgvsp: ENST00000534015.1:c.1648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1760C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.150C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1542C>T
  hgvsp: ENST00000401611.2:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.1961C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.1984C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile564Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

11-113103901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103901
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103901
    reference: chr 11
allele count: 1
allele frequency: 8.342370901810295e-6
allele num: 119870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1525G>A
  hgvsp: ENSP00000318472.7:p.Glu509Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1658G>A
  hgvsp: ENSP00000474891.1:p.Glu554Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1770G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.1994G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.53G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1552G>A
  hgvsp: ENSP00000384055.2:p.Glu518Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1171G>A
  hgvsp: ENSP00000473281.1:p.Glu391Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.55G>A
  hgvsp: ENSP00000475074.1:p.Glu19Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.36G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.1971G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1766G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1702G>A
  hgvsp: ENSP00000474028.1:p.Glu568Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.160G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.223G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22698G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28869
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu568Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

11-113103906-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103906
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103906
    reference: chr 11
allele count: 2
allele frequency: 1.667055646317474e-5
allele num: 119972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.1999A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1771A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.41A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1707A>G
  hgvsp: ENST00000524665.1:c.1707A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1663A>G
  hgvsp: ENST00000534015.1:c.1663A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1557A>G
  hgvsp: ENST00000401611.2:c.1557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.60A>G
  hgvsp: ENST00000531817.1:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.1976A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1530A>G
  hgvsp: ENST00000316851.7:c.1530A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1176A>G
  hgvsp: ENST00000533760.1:c.1176A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1775A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22693A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.58A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.165A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.228A>G
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro569Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

11-113103907-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103907
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103907
    reference: chr 11
allele count: 1
allele frequency: 8.335139280177371e-6
allele num: 119974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.61T>C
  hgvsp: ENSP00000475074.1:p.Tyr21His
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1664T>C
  hgvsp: ENSP00000474891.1:p.Tyr556His
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1177T>C
  hgvsp: ENSP00000473281.1:p.Tyr393His
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.166T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22692T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.42T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2000T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1531T>C
  hgvsp: ENSP00000318472.7:p.Tyr511His
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.1977T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1776T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1558T>C
  hgvsp: ENSP00000384055.2:p.Tyr520His
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1708T>C
  hgvsp: ENSP00000474028.1:p.Tyr570His
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1772T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.229T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.59T>C
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr570His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

11-113103917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103917
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103917
    reference: chr 11
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22682C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1674C>T
  hgvsp: ENSP00000474891.1:p.Thr559Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.69C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1786C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1568C>T
  hgvsp: ENSP00000384055.2:p.Thr523Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.176C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.71C>T
  hgvsp: ENSP00000475074.1:p.Thr24Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1187C>T
  hgvsp: ENSP00000473281.1:p.Thr396Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1718C>T
  hgvsp: ENSP00000474028.1:p.Thr573Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.1987C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2010C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1541C>T
  hgvsp: ENSP00000318472.7:p.Thr514Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1782C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.239C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.52C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr573Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

11-113103920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103920
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103920
    reference: chr 11
allele count: 1
allele frequency: 8.330834083108401e-6
allele num: 120036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.72C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2013C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1721C>T
  hgvsp: ENSP00000474028.1:p.Ala574Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.55C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22679C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.74C>T
  hgvsp: ENSP00000475074.1:p.Ala25Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1789C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1677C>T
  hgvsp: ENSP00000474891.1:p.Ala560Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.1990C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1571C>T
  hgvsp: ENSP00000384055.2:p.Ala524Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1190C>T
  hgvsp: ENSP00000473281.1:p.Ala397Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.242C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1785C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.179C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1544C>T
  hgvsp: ENSP00000318472.7:p.Ala515Val
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala574Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

11-113103927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103927
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103927
    reference: chr 11
allele count: 1
allele frequency: 8.330695279828055e-6
allele num: 120038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.79G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22672G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.186G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.1997G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1728G>A
  hgvsp: ENST00000524665.1:c.1728G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1551G>A
  hgvsp: ENST00000316851.7:c.1551G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1197G>A
  hgvsp: ENST00000533760.1:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2020G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1684G>A
  hgvsp: ENST00000534015.1:c.1684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.249G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.81G>A
  hgvsp: ENST00000531817.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1578G>A
  hgvsp: ENST00000401611.2:c.1578G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1796G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.62G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1792G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val576Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-113103935-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103935
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103935
    reference: chr 11
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22664A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1736A>G
  hgvsp: ENSP00000474028.1:p.Asp579Gly
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.257A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.89A>G
  hgvsp: ENSP00000475074.1:p.Asp30Gly
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2028A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.194A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.70A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1692A>G
  hgvsp: ENSP00000474891.1:p.Asp565Gly
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1804A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1559A>G
  hgvsp: ENSP00000318472.7:p.Asp520Gly
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.87A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1586A>G
  hgvsp: ENSP00000384055.2:p.Asp529Gly
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1205A>G
  hgvsp: ENSP00000473281.1:p.Asp402Gly
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2005A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1800A>G
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp579Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-113103966-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103966
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103966
    reference: chr 11
allele count: 1
allele frequency: 8.362322718758362e-6
allele num: 119584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1835C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.288C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1723C>A
  hgvsp: ENST00000534015.1:c.1723C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1590C>A
  hgvsp: ENST00000316851.7:c.1590C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.120C>A
  hgvsp: ENST00000531817.1:c.120C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1617C>A
  hgvsp: ENST00000401611.2:c.1617C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2036C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.101C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.225C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2059C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1831C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1767C>A
  hgvsp: ENST00000524665.1:c.1767C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22633C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1236C>A
  hgvsp: ENST00000533760.1:c.1236C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.118C>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16214
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile589Ile
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-113103987-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103987
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103987
    reference: chr 11
allele count: 1
allele frequency: 8.397010664203544e-6
allele num: 119090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1852G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.141G>T
  hgvsp: ENSP00000475074.1:p.Trp47Cys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1611G>T
  hgvsp: ENSP00000318472.7:p.Trp537Cys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2080G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.8G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2057G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1638G>T
  hgvsp: ENSP00000384055.2:p.Trp546Cys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.309G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.122G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.139G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1744G>T
  hgvsp: ENSP00000474891.1:p.Trp582Cys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1257G>T
  hgvsp: ENSP00000473281.1:p.Trp419Cys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1788G>T
  hgvsp: ENSP00000474028.1:p.Trp596Cys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22612G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1856G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.246G>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp596Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-113103996-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113103996
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113103996
    reference: chr 11
allele count: 66358
allele frequency: 5.609772592780455e-1
allele num: 118290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1266T>G
  hgvsp: ENST00000533760.1:c.1266T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.131T>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.148T>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.150T>G
  hgvsp: ENST00000531817.1:c.150T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1620T>G
  hgvsp: ENST00000316851.7:c.1620T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1647T>G
  hgvsp: ENST00000401611.2:c.1647T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1861T>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1753T>G
  hgvsp: ENST00000534015.1:c.1753T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1797T>G
  hgvsp: ENST00000524665.1:c.1797T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1865T>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22603T>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2066T>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.255T>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.318T>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2089T>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.17T>G
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 3.75e1
  variant carriers: 6048
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 267
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 1.75e1
  variant carriers: 3286
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 1728
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.25e1
  variant carriers: 1060
genotype depth: GenotypeDepth
  all individuals: 11499
  bin: 2.25e1
  variant carriers: 5936
genotype quality: GenotypeQuality
hgvs: p.Val599Val
num of homozygotes: 19082
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

11-113104006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113104006
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113104006
    reference: chr 11
allele count: 1
allele frequency: 8.838763280241829e-6
allele num: 113138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1763G>A
  hgvsp: ENSP00000474891.1:p.Val589Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1657G>A
  hgvsp: ENSP00000384055.2:p.Val553Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1276G>A
  hgvsp: ENSP00000473281.1:p.Val426Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2099G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.265G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.158G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22593G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.160G>A
  hgvsp: ENSP00000475074.1:p.Val54Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.27G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1807G>A
  hgvsp: ENSP00000474028.1:p.Val603Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2076G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1871G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.328G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1630G>A
  hgvsp: ENSP00000318472.7:p.Val544Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.141G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1875G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val603Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

11-113104006-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113104006
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113104006
    reference: chr 11
allele count: 2
allele frequency: 1.767752656048366e-5
allele num: 113138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2099G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1807G>T
  hgvsp: ENSP00000474028.1:p.Val603Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1763G>T
  hgvsp: ENSP00000474891.1:p.Val589Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22593G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1657G>T
  hgvsp: ENSP00000384055.2:p.Val553Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.27G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1276G>T
  hgvsp: ENSP00000473281.1:p.Val426Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1871G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1630G>T
  hgvsp: ENSP00000318472.7:p.Val544Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.160G>T
  hgvsp: ENSP00000475074.1:p.Val54Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.141G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.158G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2076G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.328G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.265G>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1875G>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val603Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

11-113104007-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113104007
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113104007
    reference: chr 11
allele count: 1
allele frequency: 8.860692197274451e-6
allele num: 112858
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2077T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.161T>C
  hgvsp: ENSP00000475074.1:p.Val54Ala
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.266T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.159T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.28T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1808T>C
  hgvsp: ENSP00000474028.1:p.Val603Ala
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1764T>C
  hgvsp: ENSP00000474891.1:p.Val589Ala
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1277T>C
  hgvsp: ENSP00000473281.1:p.Val426Ala
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1658T>C
  hgvsp: ENSP00000384055.2:p.Val553Ala
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1872T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.329T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2100T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1876T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1631T>C
  hgvsp: ENSP00000318472.7:p.Val544Ala
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22592T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.142T>C
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19003
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val603Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-113104049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113104049
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113104049
    reference: chr 11
allele count: 1
allele frequency: 1.022934184414575e-5
allele num: 97758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.361+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.191+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.298+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1840+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1904+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1309+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2132+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2109+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1908+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1663+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.60+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1796+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22550G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1690+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.193+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.174+10G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

11-113104050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113104050
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113104050
    reference: chr 11
allele count: 8
allele frequency: 8.245212623420526e-5
allele num: 97026
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1840+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1309+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2132+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1908+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.60+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1796+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.191+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.193+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.174+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.298+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1690+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.361+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2109+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1904+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1663+11C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22549C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20631
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

11-113104056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113104056
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113104056
    reference: chr 11
allele count: 1
allele frequency: 1.048327916972429e-5
allele num: 95390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1840+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2109+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.60+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22543G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1309+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1908+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.361+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.191+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1690+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1796+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2132+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.174+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.298+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1663+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.193+17G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1904+17G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-113104066-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113104066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113104066
    reference: chr 11
allele count: 6
allele frequency: 6.526563111865292e-5
allele num: 91932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.361+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2109+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1904+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1690+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.193+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.174+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1840+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1309+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.60+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1796+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1908+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22533T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.191+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.298+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1663+27T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2132+27T>C
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-113104070-GATC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113104070
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113104067
    reference: chr 11
allele count: 1
allele frequency: 1.121403099558167e-5
allele num: 89174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.60+34_60+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-22526_231-22524delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1663+34_1663+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1690+34_1690+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1904+34_1904+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1908+34_1908+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1796+34_1796+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.298+34_298+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.361+34_361+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.174+34_174+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2109+34_2109+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.191+34_191+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1840+34_1840+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2132+34_2132+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.193+34_193+36delCAT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1309+34_1309+36delCAT
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: GATC
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

11-113105712-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105712
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105712
    reference: chr 11
allele count: 1
allele frequency: 4.881859011911736e-5
allele num: 20484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.61-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1797-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1841-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1905-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20887T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1909-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.194-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.299-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1310-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2133-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.192-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1664-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2110-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.175-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.362-43T>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1691-43T>C
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33442
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

11-113105722-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105722
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105722
    reference: chr 11
allele count: 3
allele frequency: 1.457442673921493e-4
allele num: 20584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1905-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2133-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.194-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.61-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.299-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20877G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1909-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1310-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1841-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2110-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1664-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.362-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1797-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.192-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.175-33G>C
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1691-33G>C
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34400
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

11-113105724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105724
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105724
    reference: chr 11
allele count: 1
allele frequency: 4.862867146469558e-5
allele num: 20564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.192-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.61-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1797-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1310-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.362-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1909-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.194-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2110-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1691-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2133-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20875C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1841-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1664-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.175-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1905-31C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.299-31C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34571
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

11-113105726-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105726
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105726
    reference: chr 11
allele count: 20
allele frequency: 9.642271719217047e-4
allele num: 20742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2133-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1905-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.61-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.362-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1841-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.192-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1909-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.194-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.299-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1310-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2110-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20873C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1664-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1797-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.175-29C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1691-29C>G
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34823
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-113105726-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105726
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105725
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 20742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20869delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.175-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1841-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1909-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2110-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1310-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.61-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2133-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1797-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.192-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.362-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.299-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1905-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1664-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1691-25delT
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.194-25delT
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: CT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

11-113105728-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105728
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105728
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 20872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.61-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1691-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1664-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.194-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1310-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1909-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.192-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1841-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1905-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.299-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20871T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2110-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2133-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.362-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.175-27T>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1797-27T>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/11-113105742-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105742
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105742
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 21786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.61-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1909-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1310-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2133-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20857C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.299-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2110-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.194-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1841-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.362-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.175-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1797-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.192-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1691-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1664-13C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1905-13C>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 35066
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

11-113105743-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105743
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105743
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 21876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20856A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1797-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1664-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2133-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.362-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.192-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1841-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.175-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1310-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.194-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.61-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2110-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1905-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1909-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1691-12A>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.299-12A>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

11-113105760-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105760
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105760
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 23750
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2115A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1669A>G
  hgvsp: ENSP00000318472.7:p.Met557Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1910A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2138A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1315A>G
  hgvsp: ENSP00000473281.1:p.Met439Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1846A>G
  hgvsp: ENSP00000474028.1:p.Met616Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.197A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1914A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.304A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.180A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1802A>G
  hgvsp: ENSP00000474891.1:p.Met602Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1696A>G
  hgvsp: ENSP00000384055.2:p.Met566Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.66A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.199A>G
  hgvsp: ENSP00000475074.1:p.Met67Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20839A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.367A>G
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met616Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-113105771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105771
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105771
    reference: chr 11
allele count: 5
allele frequency: 1.975191593584578e-4
allele num: 25314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1326C>T
  hgvsp: ENST00000533760.1:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.378C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20828C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1707C>T
  hgvsp: ENST00000401611.2:c.1707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2126C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1857C>T
  hgvsp: ENST00000524665.1:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.191C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.77C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.210C>T
  hgvsp: ENST00000531817.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1925C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1680C>T
  hgvsp: ENST00000316851.7:c.1680C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.315C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.208C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1813C>T
  hgvsp: ENST00000534015.1:c.1813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2149C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1921C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24649
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21485
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Ile619Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

11-113105772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105772
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105772
    reference: chr 11
allele count: 2
allele frequency: 7.77000777000777e-5
allele num: 25740
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1858G>A
  hgvsp: ENSP00000474028.1:p.Val620Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1926G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1681G>A
  hgvsp: ENSP00000318472.7:p.Val561Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.209G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1708G>A
  hgvsp: ENSP00000384055.2:p.Val570Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.78G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1327G>A
  hgvsp: ENSP00000473281.1:p.Val443Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1814G>A
  hgvsp: ENSP00000474891.1:p.Val606Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.192G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.316G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.211G>A
  hgvsp: ENSP00000475074.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20827G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1922G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2127G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.379G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2150G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val620Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

11-113105780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105780
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105780
    reference: chr 11
allele count: 13
allele frequency: 4.800590841949778e-4
allele num: 27080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.219C>T
  hgvsp: ENST00000531817.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.86C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20819C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1822C>T
  hgvsp: ENST00000534015.1:c.1822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.200C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2135C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.324C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1866C>T
  hgvsp: ENST00000524665.1:c.1866C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.217C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2158C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1335C>T
  hgvsp: ENST00000533760.1:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1689C>T
  hgvsp: ENST00000316851.7:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1716C>T
  hgvsp: ENST00000401611.2:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1934C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.387C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1930C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19205
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile622Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

11-113105781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105781
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105781
    reference: chr 11
allele count: 32
allele frequency: 1.166435809579354e-3
allele num: 27434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2136G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1690G>A
  hgvsp: ENSP00000318472.7:p.Val564Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1823G>A
  hgvsp: ENSP00000474891.1:p.Val609Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.87G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.325G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.388G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1867G>A
  hgvsp: ENSP00000474028.1:p.Val623Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2159G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.220G>A
  hgvsp: ENSP00000475074.1:p.Val74Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20818G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.218G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1935G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.201G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1336G>A
  hgvsp: ENSP00000473281.1:p.Val446Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1717G>A
  hgvsp: ENSP00000384055.2:p.Val573Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1931G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27607
  bin: 7.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
hgvs: p.Val623Met
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/11-113105786-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105786
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105786
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 29012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1940C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1341C>A
  hgvsp: ENST00000533760.1:c.1341C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.206C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1722C>A
  hgvsp: ENST00000401611.2:c.1722C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2141C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1695C>A
  hgvsp: ENST00000316851.7:c.1695C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1872C>A
  hgvsp: ENST00000524665.1:c.1872C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1828C>A
  hgvsp: ENST00000534015.1:c.1828C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.393C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2164C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.223C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.330C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.225C>A
  hgvsp: ENST00000531817.1:c.225C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.92C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1936C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20813C>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29626
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly624Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

11-113105789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105789
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105789
    reference: chr 11
allele count: 92
allele frequency: 2.977346278317152e-3
allele num: 30900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.396G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1344G>A
  hgvsp: ENST00000533760.1:c.1344G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1698G>A
  hgvsp: ENST00000316851.7:c.1698G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1831G>A
  hgvsp: ENST00000534015.1:c.1831G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1939G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1725G>A
  hgvsp: ENST00000401611.2:c.1725G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.95G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.209G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.333G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2167G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.228G>A
  hgvsp: ENST00000531817.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1875G>A
  hgvsp: ENST00000524665.1:c.1875G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1943G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20810G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.226G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2144G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13436
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30897
  bin: 7.5e0
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Leu625Leu
num of homozygotes: 1
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

11-113105795-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105795
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105795
    reference: chr 11
allele count: 1
allele frequency: 2.996164908916587e-5
allele num: 33376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.101C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20804C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1837C>G
  hgvsp: ENST00000534015.1:c.1837C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1704C>G
  hgvsp: ENST00000316851.7:c.1704C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1731C>G
  hgvsp: ENST00000401611.2:c.1731C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.234C>G
  hgvsp: ENST00000531817.1:c.234C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1945C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1350C>G
  hgvsp: ENST00000533760.1:c.1350C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1949C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.232C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1881C>G
  hgvsp: ENST00000524665.1:c.1881C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.339C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.402C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2173C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2150C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.215C>G
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro627Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

11-113105795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105795
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105795
    reference: chr 11
allele count: 2
allele frequency: 5.992329817833173e-5
allele num: 33376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1704C>T
  hgvsp: ENST00000316851.7:c.1704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.232C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1949C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.339C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1350C>T
  hgvsp: ENST00000533760.1:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.234C>T
  hgvsp: ENST00000531817.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20804C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2173C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.101C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.215C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1881C>T
  hgvsp: ENST00000524665.1:c.1881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1731C>T
  hgvsp: ENST00000401611.2:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1837C>T
  hgvsp: ENST00000534015.1:c.1837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1945C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.402C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2150C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro627Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

11-113105796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105796
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105796
    reference: chr 11
allele count: 4
allele frequency: 1.166520851560222e-4
allele num: 34290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1882G>A
  hgvsp: ENSP00000474028.1:p.Glu628Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1732G>A
  hgvsp: ENSP00000384055.2:p.Glu578Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20803G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1351G>A
  hgvsp: ENSP00000473281.1:p.Glu451Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1946G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1838G>A
  hgvsp: ENSP00000474891.1:p.Glu614Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2151G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.340G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1705G>A
  hgvsp: ENSP00000318472.7:p.Glu569Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1950G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.403G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.216G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.233G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.235G>A
  hgvsp: ENSP00000475074.1:p.Glu79Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2174G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.102G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33147
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu628Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-113105803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105803
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105803
    reference: chr 11
allele count: 3
allele frequency: 7.948704361189126e-5
allele num: 37742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1358C>T
  hgvsp: ENSP00000473281.1:p.Thr453Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.109C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2181C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.347C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1739C>T
  hgvsp: ENSP00000384055.2:p.Thr580Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1889C>T
  hgvsp: ENSP00000474028.1:p.Thr630Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2158C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1953C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.242C>T
  hgvsp: ENSP00000475074.1:p.Thr81Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1845C>T
  hgvsp: ENSP00000474891.1:p.Thr616Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.223C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1712C>T
  hgvsp: ENSP00000318472.7:p.Thr571Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1957C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.410C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20796C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.240C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr630Met
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

11-113105804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105804
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105804
    reference: chr 11
allele count: 1
allele frequency: 2.588125679382991e-5
allele num: 38638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1958G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1846G>A
  hgvsp: ENST00000534015.1:c.1846G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1890G>A
  hgvsp: ENST00000524665.1:c.1890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1954G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.110G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.224G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.243G>A
  hgvsp: ENST00000531817.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1713G>A
  hgvsp: ENST00000316851.7:c.1713G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1359G>A
  hgvsp: ENST00000533760.1:c.1359G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2182G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1740G>A
  hgvsp: ENST00000401611.2:c.1740G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2159G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.348G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20795G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.411G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.241G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr630Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

11-113105807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105807
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105807
    reference: chr 11
allele count: 10
allele frequency: 2.462326405988378e-4
allele num: 40612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.244C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.113C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.351C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1716C>T
  hgvsp: ENST00000316851.7:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2162C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1362C>T
  hgvsp: ENST00000533760.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1893C>T
  hgvsp: ENST00000524665.1:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.227C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2185C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1961C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1849C>T
  hgvsp: ENST00000534015.1:c.1849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1957C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20792C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.414C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.246C>T
  hgvsp: ENST00000531817.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1743C>T
  hgvsp: ENST00000401611.2:c.1743C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34444
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr631Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

11-113105808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105808
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105808
    reference: chr 11
allele count: 3
allele frequency: 7.135042572420682e-5
allele num: 42046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.114G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.245G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20791G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1363G>A
  hgvsp: ENSP00000473281.1:p.Ala455Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1717G>A
  hgvsp: ENSP00000318472.7:p.Ala573Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2163G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.247G>A
  hgvsp: ENSP00000475074.1:p.Ala83Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1744G>A
  hgvsp: ENSP00000384055.2:p.Ala582Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1850G>A
  hgvsp: ENSP00000474891.1:p.Ala618Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.415G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1958G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.352G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1894G>A
  hgvsp: ENSP00000474028.1:p.Ala632Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.228G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1962G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2186G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala632Thr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

11-113105810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105810
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105810
    reference: chr 11
allele count: 43
allele frequency: 9.778060760414773e-4
allele num: 43976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.116C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1365C>T
  hgvsp: ENST00000533760.1:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2165C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.230C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1719C>T
  hgvsp: ENST00000316851.7:c.1719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2188C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1960C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.354C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1896C>T
  hgvsp: ENST00000524665.1:c.1896C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.249C>T
  hgvsp: ENST00000531817.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.247C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1852C>T
  hgvsp: ENST00000534015.1:c.1852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1746C>T
  hgvsp: ENST00000401611.2:c.1746C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.417C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20789C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1964C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34079
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Ala632Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-113105811-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105811
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105811
    reference: chr 11
allele count: 10
allele frequency: 2.188758536158291e-4
allele num: 45688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1961G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20788G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1853G>A
  hgvsp: ENSP00000474891.1:p.Val619Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2189G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1747G>A
  hgvsp: ENSP00000384055.2:p.Val583Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2166G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.231G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1897G>A
  hgvsp: ENSP00000474028.1:p.Val633Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1366G>A
  hgvsp: ENSP00000473281.1:p.Val456Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1720G>A
  hgvsp: ENSP00000318472.7:p.Val574Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.355G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.250G>A
  hgvsp: ENSP00000475074.1:p.Val84Ile
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1965G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.117G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.418G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.248G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val633Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

11-113105821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105821
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105821
    reference: chr 11
allele count: 15
allele frequency: 2.618075191119489e-4
allele num: 57294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1971C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.428C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2199C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1730C>T
  hgvsp: ENSP00000318472.7:p.Ala577Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20778C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1975C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1863C>T
  hgvsp: ENSP00000474891.1:p.Ala622Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.241C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1376C>T
  hgvsp: ENSP00000473281.1:p.Ala459Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.258C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1907C>T
  hgvsp: ENSP00000474028.1:p.Ala636Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2176C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.127C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1757C>T
  hgvsp: ENSP00000384055.2:p.Ala586Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.260C>T
  hgvsp: ENSP00000475074.1:p.Ala87Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.365C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29378
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala636Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

11-113105822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105822
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105822
    reference: chr 11
allele count: 6
allele frequency: 1.015606486340093e-4
allele num: 59078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1976G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.259G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2200G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.366G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.242G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.261G>A
  hgvsp: ENST00000531817.1:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.429G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.128G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1864G>A
  hgvsp: ENST00000534015.1:c.1864G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1908G>A
  hgvsp: ENST00000524665.1:c.1908G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1758G>A
  hgvsp: ENST00000401611.2:c.1758G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1377G>A
  hgvsp: ENST00000533760.1:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20777G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2177G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1731G>A
  hgvsp: ENST00000316851.7:c.1731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1972G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15522
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala636Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

11-113105825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105825
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105825
    reference: chr 11
allele count: 185
allele frequency: 2.827622046281295e-3
allele num: 65426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1380G>A
  hgvsp: ENST00000533760.1:c.1380G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2203G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.369G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1911G>A
  hgvsp: ENST00000524665.1:c.1911G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.264G>A
  hgvsp: ENST00000531817.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20774G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.131G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1761G>A
  hgvsp: ENST00000401611.2:c.1761G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1979G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1734G>A
  hgvsp: ENST00000316851.7:c.1734G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2180G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1975G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1867G>A
  hgvsp: ENST00000534015.1:c.1867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.245G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.432G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.262G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 1.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 26180
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala637Ala
num of homozygotes: 1
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

11-113105841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105841
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105841
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 85398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.278C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2196C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1777C>T
  hgvsp: ENST00000401611.2:c.1777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1883C>T
  hgvsp: ENST00000534015.1:c.1883C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1396C>T
  hgvsp: ENST00000533760.1:c.1396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1750C>T
  hgvsp: ENST00000316851.7:c.1750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1927C>T
  hgvsp: ENST00000524665.1:c.1927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.261C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.280C>T
  hgvsp: ENST00000531817.1:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.1991C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.1995C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2219C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20758C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.385C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.147C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.448C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17080
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu643Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

11-113105855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105855
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105855
    reference: chr 11
allele count: 13
allele frequency: 1.342642320085929e-4
allele num: 96824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.294C>T
  hgvsp: ENST00000531817.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1764C>T
  hgvsp: ENST00000316851.7:c.1764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1941C>T
  hgvsp: ENST00000524665.1:c.1941C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2210C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1791C>T
  hgvsp: ENST00000401611.2:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20744C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1897C>T
  hgvsp: ENST00000534015.1:c.1897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2233C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.399C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2009C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1410C>T
  hgvsp: ENST00000533760.1:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.161C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.275C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.462C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2005C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.292C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser647Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

11-113105856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105856
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105856
    reference: chr 11
allele count: 2
allele frequency: 2.020038784744667e-5
allele num: 99008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1765G>A
  hgvsp: ENSP00000318472.7:p.Ala589Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2234G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2211G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.463G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.400G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1898G>A
  hgvsp: ENSP00000474891.1:p.Ala634Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1942G>A
  hgvsp: ENSP00000474028.1:p.Ala648Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20743G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2010G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1792G>A
  hgvsp: ENSP00000384055.2:p.Ala598Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1411G>A
  hgvsp: ENSP00000473281.1:p.Ala471Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.295G>A
  hgvsp: ENSP00000475074.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.276G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.162G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2006G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.293G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala648Thr
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-113105857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105857
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105857
    reference: chr 11
allele count: 183
allele frequency: 1.832235327099061e-3
allele num: 99878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2011C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1943C>T
  hgvsp: ENSP00000474028.1:p.Ala648Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2235C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1412C>T
  hgvsp: ENSP00000473281.1:p.Ala471Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.294C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.163C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1899C>T
  hgvsp: ENSP00000474891.1:p.Ala634Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1793C>T
  hgvsp: ENSP00000384055.2:p.Ala598Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2007C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2212C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20742C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1766C>T
  hgvsp: ENSP00000318472.7:p.Ala589Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.401C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.277C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.296C>T
  hgvsp: ENSP00000475074.1:p.Ala99Val
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.464C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 9990
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
hgvs: p.Ala648Val
num of homozygotes: 1
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-113105857-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105857
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105857
    reference: chr 11
allele count: 1
allele frequency: 1.001221490218066e-5
allele num: 99878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1766C>A
  hgvsp: ENSP00000318472.7:p.Ala589Glu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2212C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.163C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.401C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1412C>A
  hgvsp: ENSP00000473281.1:p.Ala471Glu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2235C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.296C>A
  hgvsp: ENSP00000475074.1:p.Ala99Glu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1899C>A
  hgvsp: ENSP00000474891.1:p.Ala634Glu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2011C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1943C>A
  hgvsp: ENSP00000474028.1:p.Ala648Glu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20742C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.277C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2007C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.294C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.464C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1793C>A
  hgvsp: ENSP00000384055.2:p.Ala598Glu
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala648Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

11-113105858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105858
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105858
    reference: chr 11
allele count: 4
allele frequency: 3.924184750618059e-5
allele num: 101932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1900G>A
  hgvsp: ENST00000534015.1:c.1900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.295G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1794G>A
  hgvsp: ENST00000401611.2:c.1794G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.278G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20741G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1767G>A
  hgvsp: ENST00000316851.7:c.1767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.164G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1944G>A
  hgvsp: ENST00000524665.1:c.1944G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2236G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2213G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2012G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1413G>A
  hgvsp: ENST00000533760.1:c.1413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.465G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.402G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2008G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.297G>A
  hgvsp: ENST00000531817.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala648Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

11-113105864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105864
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105864
    reference: chr 11
allele count: 33
allele frequency: 3.090003370912769e-4
allele num: 106796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2018C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2014C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1950C>T
  hgvsp: ENST00000524665.1:c.1950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1906C>T
  hgvsp: ENST00000534015.1:c.1906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.303C>T
  hgvsp: ENST00000531817.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.284C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.170C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.301C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1773C>T
  hgvsp: ENST00000316851.7:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1419C>T
  hgvsp: ENST00000533760.1:c.1419C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2242C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1800C>T
  hgvsp: ENST00000401611.2:c.1800C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20735C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.408C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.471C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2219C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser650Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

11-113105865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105865
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105865
    reference: chr 11
allele count: 5
allele frequency: 4.626802139433309e-5
allele num: 108066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1420G>A
  hgvsp: ENSP00000473281.1:p.Glu474Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1907G>A
  hgvsp: ENSP00000474891.1:p.Glu637Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2220G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1801G>A
  hgvsp: ENSP00000384055.2:p.Glu601Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.472G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1951G>A
  hgvsp: ENSP00000474028.1:p.Glu651Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20734G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2015G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.304G>A
  hgvsp: ENSP00000475074.1:p.Glu102Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.171G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.285G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.302G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1774G>A
  hgvsp: ENSP00000318472.7:p.Glu592Lys
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.409G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2019G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2243G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu651Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

11-113105875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105875
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105875
    reference: chr 11
allele count: 1
allele frequency: 8.861163293517173e-6
allele num: 112852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.314C>T
  hgvsp: ENSP00000475074.1:p.Thr105Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20724C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1430C>T
  hgvsp: ENSP00000473281.1:p.Thr477Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2029C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.181C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1917C>T
  hgvsp: ENSP00000474891.1:p.Thr640Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.482C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2025C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1784C>T
  hgvsp: ENSP00000318472.7:p.Thr595Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1811C>T
  hgvsp: ENSP00000384055.2:p.Thr604Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2253C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1961C>T
  hgvsp: ENSP00000474028.1:p.Thr654Met
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2230C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.312C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.419C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.295C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr654Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-113105876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105876
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105876
    reference: chr 11
allele count: 5
allele frequency: 4.414309425433485e-5
allele num: 113268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2254G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.315G>A
  hgvsp: ENST00000531817.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.296G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1785G>A
  hgvsp: ENST00000316851.7:c.1785G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.182G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.313G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1962G>A
  hgvsp: ENST00000524665.1:c.1962G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2231G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1812G>A
  hgvsp: ENST00000401611.2:c.1812G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.420G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1431G>A
  hgvsp: ENST00000533760.1:c.1431G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1918G>A
  hgvsp: ENST00000534015.1:c.1918G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2026G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.483G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2030G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20723G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr654Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

11-113105881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105881
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105881
    reference: chr 11
allele count: 1
allele frequency: 8.678898127093784e-6
allele num: 115222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1436C>T
  hgvsp: ENSP00000473281.1:p.Pro479Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.488C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2035C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.187C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.301C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1923C>T
  hgvsp: ENSP00000474891.1:p.Pro642Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2259C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.320C>T
  hgvsp: ENSP00000475074.1:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1967C>T
  hgvsp: ENSP00000474028.1:p.Pro656Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1817C>T
  hgvsp: ENSP00000384055.2:p.Pro606Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.318C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2031C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.425C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1790C>T
  hgvsp: ENSP00000318472.7:p.Pro597Leu
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20718C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2236C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro656Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

11-113105896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105896
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105896
    reference: chr 11
allele count: 1
allele frequency: 8.491847826086957e-6
allele num: 117760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1972+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1795+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1928+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1441+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.430+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1822+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.493+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.325+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.306+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.323+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20703G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.192+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2036+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2241+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2040+10G>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2264+10G>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

11-113105897-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105897
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105897
    reference: chr 11
allele count: 1
allele frequency: 8.485794779539051e-6
allele num: 117844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1928+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1795+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2040+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1972+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.192+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1822+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.325+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2036+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1441+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20702C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.493+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2264+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.323+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2241+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.430+11C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.306+11C>G
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-113105907-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105907
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105907
    reference: chr 11
allele count: 26404
allele frequency: 2.217705358642701e-1
allele num: 119060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2264+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1972+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1795+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20692C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.493+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2040+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.192+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1928+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.325+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.430+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1822+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2036+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2241+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.306+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.323+21C>A
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1441+21C>A
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.25e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.25e1
  variant carriers: 2448
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 6.25e1
  variant carriers: 1192
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 4.75e1
  variant carriers: 3094
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.75e1
  variant carriers: 3112
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 515
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 462
genotype depth: GenotypeDepth
  all individuals: 23466
  bin: 2.25e1
  variant carriers: 919
genotype quality: GenotypeQuality
num of homozygotes: 3471
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

11-113105909-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105909
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105909
    reference: chr 11
allele count: 111
allele frequency: 9.310986964618249e-4
allele num: 119214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1822+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1972+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2241+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.430+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1795+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20690C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1441+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.306+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2040+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.323+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.493+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.325+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2264+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.192+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2036+23C>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1928+23C>G
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

11-113105917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105917
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105917
    reference: chr 11
allele count: 1
allele frequency: 8.374788536589452e-6
allele num: 119406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.325+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2264+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2040+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.192+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.323+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.306+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20682A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.493+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1795+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1822+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1972+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2241+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2036+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1928+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1441+31A>G
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.430+31A>G
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

11-113105921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113105921
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 113105921
    reference: chr 11
allele count: 1
allele frequency: 8.375770570892522e-6
allele num: 119392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000318472
  ensembl transcript: ENST00000316851
  gene symbol: NCAM1
  hgvsc: ENST00000316851.7:c.1795+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000527506
  gene symbol: NCAM1
  hgvsc: ENST00000527506.1:n.2040+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000525355
  gene symbol: NCAM1
  hgvsc: ENST00000525355.1:n.192+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474028
  ensembl transcript: ENST00000524665
  gene symbol: NCAM1
  hgvsc: ENST00000524665.1:c.1972+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000397957
  gene symbol: NCAM1
  hgvsc: ENST00000397957.4:n.2036+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000475074
  ensembl transcript: ENST00000531817
  gene symbol: NCAM1
  hgvsc: ENST00000531817.1:c.325+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531044
  gene symbol: NCAM1
  hgvsc: ENST00000531044.1:n.2264+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526322
  gene symbol: NCAM1
  hgvsc: ENST00000526322.1:n.430+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000530543
  gene symbol: NCAM1
  hgvsc: ENST00000530543.1:n.493+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000474891
  ensembl transcript: ENST00000534015
  gene symbol: NCAM1
  hgvsc: ENST00000534015.1:c.1928+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000533073
  gene symbol: NCAM1
  hgvsc: ENST00000533073.1:n.323+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000526427
  gene symbol: NCAM1
  hgvsc: ENST00000526427.1:n.231-20678C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000528590
  gene symbol: NCAM1
  hgvsc: ENST00000528590.1:n.306+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000473281
  ensembl transcript: ENST00000533760
  gene symbol: NCAM1
  hgvsc: ENST00000533760.1:c.1441+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl protein: ENSP00000384055
  ensembl transcript: ENST00000401611
  gene symbol: NCAM1
  hgvsc: ENST00000401611.2:c.1822+35C>T
  variant of: http://identifiers.org/hgnc/7656
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149294
  ensembl transcript: ENST00000531915
  gene symbol: NCAM1
  hgvsc: ENST00000531915.1:n.2241+35C>T
  variant of: http://identifiers.org/hgnc/7656
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 712
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 985
bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2792
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7292
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 8.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.047998323202683e-4
allele num: 9542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.700935e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

GenotypeDepth
all individuals: 15931
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 2.5e0
variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 712
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variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3309
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variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 901
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6368
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 246
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2931
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7634
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

FS
type: SiteQuality
SIO_000300: 2.582e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 1.732935e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.676e0

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeDepth
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 428
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 712
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 988
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2064
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 333
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variant carriers: 0

GenotypeDepth
all individuals: 508
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 435
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variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
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variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
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variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1108
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 6387
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variant carriers: 1

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

GenotypeQuality
all individuals: 7741
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.180469715698394e-5
allele num: 16180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.147e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 6.628e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: -5.577e-1

DP
type: SiteQuality
SIO_000300: 1.742016e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.065e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.299e0

GenotypeDepth
all individuals: 28660
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
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variant carriers: 0

GenotypeDepth
all individuals: 540
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variant carriers: 0

GenotypeDepth
all individuals: 377
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variant carriers: 0

GenotypeDepth
all individuals: 6372
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variant carriers: 0

GenotypeDepth
all individuals: 508
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variant carriers: 0

GenotypeDepth
all individuals: 712
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 6393
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 622
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3000
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variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 2115
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 3386
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variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 33936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7760
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.74e0

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.221e1

DP
type: SiteQuality
SIO_000300: 1.743258e6

VQSLOD
type: SiteQuality
SIO_000300: -4.274e-1

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 540
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 197
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variant carriers: 0

GenotypeDepth
all individuals: 333
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variant carriers: 0

GenotypeDepth
all individuals: 508
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variant carriers: 0

GenotypeDepth
all individuals: 450
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variant carriers: 0

GenotypeDepth
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 1004
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variant carriers: 0

GenotypeQuality
all individuals: 2116
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.91e0

FS
type: SiteQuality
SIO_000300: 1.181e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

DP
type: SiteQuality
SIO_000300: 1.743676e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

GenotypeDepth
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bin: 2.25e1
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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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 268
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GenotypeDepth
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GenotypeQuality
all individuals: 142
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variant carriers: 0

GenotypeQuality
all individuals: 628
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2997
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variant carriers: 0

GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 1009
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 1128
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 196
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GenotypeQuality
all individuals: 196
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variant carriers: 0

GenotypeQuality
all individuals: 6400
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3398
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variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.397e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.043e0

QD
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SIO_000300: 7.77e0

InbreedingCoeff
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SIO_000300: 3.3e-3

BaseQRankSum
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SIO_000300: -1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.744696e6

ClippingRankSum
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SIO_000300: 1.3e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

East Asian
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allele frequency: 1.160631383472609e-4
allele num: 8616
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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.23e-1

MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.144770800049158e-5
allele num: 16274
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.25e-1

InbreedingCoeff
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SIO_000300: 2.9e-3

MQRankSum
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MQ
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QD
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BaseQRankSum
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FS
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SIO_000300: 1.427e0

VQSLOD
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SIO_000300: -2.431e0

DP
type: SiteQuality
SIO_000300: 1.74276e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-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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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
allele num: 11490
num of homozygotes: 0

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 frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.99e-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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66300
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele num: 66024
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.622e0

MQ
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QD
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FS
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DP
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeDepth
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variant carriers: 4236

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 50

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 920

GenotypeQuality
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variant carriers: 91

GenotypeQuality
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variant carriers: 275

European (Non-Finnish)
type: Population
allele count: 34073
allele frequency: 5.203255757131513e-1
allele num: 65484
num of homozygotes: 8668

European (Finnish)
type: Population
allele count: 3066
allele frequency: 4.732942266131522e-1
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num of homozygotes: 713

East Asian
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allele count: 6233
allele frequency: 7.322603383458647e-1
allele num: 8512
num of homozygotes: 2295

South Asian
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allele count: 8659
allele frequency: 5.39031374501992e-1
allele num: 16064
num of homozygotes: 2369

African
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allele count: 8323
allele frequency: 8.585723127707861e-1
allele num: 9694
num of homozygotes: 3570

Latino
type: Population
allele count: 5548
allele frequency: 4.964209019327129e-1
allele num: 11176
num of homozygotes: 1355

Other
type: Population
allele count: 456
allele frequency: 5.170068027210885e-1
allele num: 882
num of homozygotes: 112

BaseQRankSum
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SIO_000300: 1.36e0

MQRankSum
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InbreedingCoeff
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MQ
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DP
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ClippingRankSum
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ReadPosRankSum
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FS
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VQSLOD
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QD
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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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South Asian
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European (Non-Finnish)
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African
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East Asian
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Latino
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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African
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Latino
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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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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South Asian
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Latino
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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European (Finnish)
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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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Other
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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QD
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BaseQRankSum
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Latino
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East Asian
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African
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European (Finnish)
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DP
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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QD
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East Asian
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African
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South Asian
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allele frequency: 8.841732979664014e-5
allele num: 11310
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54348
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQ
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SIO_000300: 5.896e1

MQRankSum
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SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.269928e6

FS
type: SiteQuality
SIO_000300: 1.922e0

VQSLOD
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SIO_000300: -9.893999999999999e-1

QD
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ClippingRankSum
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SIO_000300: 3.55e-1

ReadPosRankSum
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SIO_000300: -8.29e-1

BaseQRankSum
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SIO_000300: 1.09e0

GenotypeDepth
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variant carriers: 3

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

European (Non-Finnish)
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allele count: 4
allele frequency: 7.585814526834819e-5
allele num: 52730
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10446
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.447596988998263e-4
allele num: 6908
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.298364061282784e-4
allele num: 7702
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

QD
type: SiteQuality
SIO_000300: 5.05e0

ReadPosRankSum
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SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 1.462e0

VQSLOD
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SIO_000300: -1.039e0

BaseQRankSum
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SIO_000300: 1.8e0

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

DP
type: SiteQuality
SIO_000300: 1.192311e6

ClippingRankSum
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SIO_000300: 6.23e-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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.947495520760302e-5
allele num: 51348
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.958e1

ReadPosRankSum
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SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

FS
type: SiteQuality
SIO_000300: 4.374e0

DP
type: SiteQuality
SIO_000300: 1.158808e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.503759398496241e-4
allele num: 6650
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.04795e5

BaseQRankSum
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SIO_000300: 2.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

VQSLOD
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SIO_000300: -2.498e0

InbreedingCoeff
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SIO_000300: -7.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.474e0

ReadPosRankSum
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SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 3
allele frequency: 1.362397820163488e-3
allele num: 2202
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 642
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8818
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -7.27e-2

MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
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ReadPosRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.135073779795687e-4
allele num: 8810
num of homozygotes: 0

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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Latino
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East Asian
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African
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Other
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8884
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 432
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European (Finnish)
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African
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num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.939447383891828e-3
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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Other
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European (Finnish)
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Latino
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

Other
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num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -7.2e-1

ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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Latino
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East Asian
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South Asian
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FS
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MQ
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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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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European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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South Asian
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 594
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African
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.50938761186173e-4
allele num: 11398
num of homozygotes: 0

FS
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.247816321437484e-4
allele num: 8014
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele num: 2610
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.106194690265487e-3
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 9
allele frequency: 7.174744897959184e-4
allele num: 12544
num of homozygotes: 0

Latino
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South Asian
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allele frequency: 3.694581280788178e-4
allele num: 8120
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ClippingRankSum
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SIO_000300: 1.01e-1

FS
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QD
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 8156
num of homozygotes: 0

Latino
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Other
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European (Non-Finnish)
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allele frequency: 1.642164529246168e-3
allele num: 12788
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European (Finnish)
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African
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East Asian
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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East Asian
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Other
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African
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Latino
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DP
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FS
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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East Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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Latino
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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QD
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VQSLOD
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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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1232
num of homozygotes: 0

African
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allele count: 1
allele frequency: 3.006614552014432e-4
allele num: 3326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

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

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

MQRankSum
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SIO_000300: 3.61e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.8e-2

ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 6.159e0

QD
type: SiteQuality
SIO_000300: 1.002e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.116883116883117e-4
allele num: 1232
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

African
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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
allele num: 2158
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 6.121449559255632e-5
allele num: 16336
num of homozygotes: 0

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

QD
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SIO_000300: 1.002e1

ClippingRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.422e0

ReadPosRankSum
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SIO_000300: 0.0e0

FS
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SIO_000300: 6.159e0

VQSLOD
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DP
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SIO_000300: 6.36617e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 7.8125e-4
allele num: 1280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2208
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.297266253158741e-4
allele num: 8706
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.908070424199456e-5
allele num: 16926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

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

FS
type: SiteQuality
SIO_000300: 5.554e0

DP
type: SiteQuality
SIO_000300: 6.45141e5

BaseQRankSum
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SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 7.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.337135614702154e-4
allele num: 1578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.73224043715847e-4
allele num: 3660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.237795935470354e-5
allele num: 19092
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
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SIO_000300: 6.79453e5

VQSLOD
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BaseQRankSum
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SIO_000300: -1.134e0

InbreedingCoeff
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SIO_000300: -1.48e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.261e1

MQ
type: SiteQuality
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.530973451327434e-4
allele num: 1808
num of homozygotes: 0

DP
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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SIO_000300: -4.33e-1

ReadPosRankSum
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SIO_000300: -1.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

MQ
type: SiteQuality
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 2.879355024474518e-4
allele num: 20838
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.011122345803842e-3
allele num: 1978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3876
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2520
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South Asian
type: Population
allele count: 1
allele frequency: 1.086248099065827e-4
allele num: 9206
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.376344086021505e-4
allele num: 1860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -1.25e-2

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 522
bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.382743362831858e-4
allele num: 21696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.16846e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.112e1

GenotypeDepth
all individuals: 8
bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 12

GenotypeDepth
all individuals: 3
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 10

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

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

GenotypeQuality
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GenotypeQuality
all individuals: 324
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 36
allele frequency: 8.604206500956023e-3
allele num: 4184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.344086021505376e-3
allele num: 2232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.749781277340332e-4
allele num: 22860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

VQSLOD
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SIO_000300: 4.38e0

ReadPosRankSum
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SIO_000300: 3.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.33886e5

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

FS
type: SiteQuality
SIO_000300: 1.155e0

QD
type: SiteQuality
SIO_000300: 1.378e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 757
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variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.08437552109388e-4
allele num: 23988
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.236698785085882e-4
allele num: 9548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

FS
type: SiteQuality
SIO_000300: 1.216e0

DP
type: SiteQuality
SIO_000300: 7.52119e5

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

GenotypeDepth
all individuals: 243
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3821
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variant carriers: 2

GenotypeDepth
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variant carriers: 3

GenotypeDepth
all individuals: 3
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2017
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
all individuals: 811
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 14934
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.071253071253071e-4
allele num: 3256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 4.491786447638604e-4
allele num: 31168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 8.42525e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 3.8e0

FS
type: SiteQuality
SIO_000300: 1.193e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 1

GenotypeDepth
all individuals: 2117
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GenotypeDepth
all individuals: 28999
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 867
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GenotypeQuality
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GenotypeQuality
all individuals: 855
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GenotypeQuality
all individuals: 14379
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.929115407147042e-4
allele num: 3414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.207709975789931e-5
allele num: 32218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.856536829926726e-4
allele num: 5186
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.610966057441253e-4
allele num: 3830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3390
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.48838e5

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 7.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.0934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -7.808e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 18493
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variant carriers: 30

GenotypeDepth
all individuals: 104
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variant carriers: 2

GenotypeDepth
all individuals: 1544
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variant carriers: 9

GenotypeDepth
all individuals: 2
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GenotypeDepth
all individuals: 5930
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variant carriers: 42

GenotypeDepth
all individuals: 5
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GenotypeDepth
all individuals: 7
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GenotypeDepth
all individuals: 435
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GenotypeDepth
all individuals: 4250
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GenotypeDepth
all individuals: 33
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GenotypeDepth
all individuals: 247
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GenotypeDepth
all individuals: 7
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GenotypeQuality
all individuals: 910
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GenotypeQuality
all individuals: 923
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GenotypeQuality
all individuals: 1104
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GenotypeQuality
all individuals: 1330
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GenotypeQuality
all individuals: 651
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GenotypeQuality
all individuals: 169
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GenotypeQuality
all individuals: 237
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GenotypeQuality
all individuals: 427
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GenotypeQuality
all individuals: 692
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GenotypeQuality
all individuals: 580
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GenotypeQuality
all individuals: 234
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GenotypeQuality
all individuals: 18248
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GenotypeQuality
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GenotypeQuality
all individuals: 26818
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GenotypeQuality
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GenotypeQuality
all individuals: 277
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GenotypeQuality
all individuals: 570
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variant carriers: 7

GenotypeQuality
all individuals: 213
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variant carriers: 3

GenotypeQuality
all individuals: 2564
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variant carriers: 2

GenotypeQuality
all individuals: 1948
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variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 2.579979360165118e-4
allele num: 3876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 6.962576153176675e-3
allele num: 4596
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 58
allele frequency: 1.608876560332871e-3
allele num: 36050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3702
num of homozygotes: 0

African
type: Population
allele count: 92
allele frequency: 1.624293785310734e-2
allele num: 5664
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.098360655737705e-3
allele num: 488
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

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

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

East Asian
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South Asian
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InbreedingCoeff
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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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BaseQRankSum
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QD
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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num of homozygotes: 0

African
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South Asian
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East Asian
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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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allele frequency: 1.672240802675585e-4
allele num: 53820
num of homozygotes: 0

Latino
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InbreedingCoeff
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SIO_000300: -1.7e-3

BaseQRankSum
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SIO_000300: -1.609e0

VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.2e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 14130
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Other
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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MQ
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 8000
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European (Finnish)
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Other
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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African
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DP
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FS
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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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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European (Non-Finnish)
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allele frequency: 1.771793054571226e-5
allele num: 56440
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 4.209935447656469e-4
allele num: 7126
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Other
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Latino
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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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num of homozygotes: 0

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

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

MQRankSum
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SIO_000300: -2.12e-1

ReadPosRankSum
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SIO_000300: 5.4e-2

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

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

Latino
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allele frequency: 2.006420545746388e-4
allele num: 9968
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South Asian
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allele frequency: 1.676951972095519e-3
allele num: 14908
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African
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.014953650449963e-4
allele num: 59116
num of homozygotes: 0

DP
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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SIO_000300: 1.0e-4

FS
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SIO_000300: 1.747e0

BaseQRankSum
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SIO_000300: 8.44e-1

MQRankSum
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SIO_000300: -3.1e-2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 10148
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8598
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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.370722560771445e-5
allele num: 59732
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -5.92e-1

BaseQRankSum
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MQRankSum
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QD
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FS
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DP
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ReadPosRankSum
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SIO_000300: 7.11e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 15624
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.605136436597111e-5
allele num: 62300
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.851e1

FS
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SIO_000300: 1.9679e1

ReadPosRankSum
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QD
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DP
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SIO_000300: 1.347391e6

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

European (Finnish)
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num of homozygotes: 0

African
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Other
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South Asian
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European (Non-Finnish)
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allele frequency: 4.798925040790863e-5
allele num: 62514
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Latino
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ClippingRankSum
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MQ
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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allele num: 63556
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193032689095681e-4
allele num: 8382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.452e1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.653e0

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

DP
type: SiteQuality
SIO_000300: 1.429676e6

GenotypeDepth
all individuals: 6
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37609
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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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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 3
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3225
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variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540832049306625e-5
allele num: 64900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.988e-1

QD
type: SiteQuality
SIO_000300: 1.548e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 1.432098e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.232e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

GenotypeDepth
all individuals: 2593
bin: 5.25e1
variant carriers: 2519

GenotypeDepth
all individuals: 3751
bin: 4.25e1
variant carriers: 3330

GenotypeDepth
all individuals: 9338
bin: 2.75e1
variant carriers: 1632

GenotypeDepth
all individuals: 74
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variant carriers: 9

GenotypeDepth
all individuals: 1879
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variant carriers: 1842

GenotypeDepth
all individuals: 213
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variant carriers: 212

GenotypeDepth
all individuals: 162
bin: 9.75e1
variant carriers: 162

GenotypeDepth
all individuals: 132
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variant carriers: 132

GenotypeDepth
all individuals: 766
bin: 6.75e1
variant carriers: 760

GenotypeDepth
all individuals: 324
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variant carriers: 321

GenotypeQuality
all individuals: 2207
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variant carriers: 112

GenotypeQuality
all individuals: 22457
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variant carriers: 21929

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 16

GenotypeQuality
all individuals: 50
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variant carriers: 11

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 47

GenotypeQuality
all individuals: 988
bin: 2.25e1
variant carriers: 31

GenotypeQuality
all individuals: 243
bin: 4.75e1
variant carriers: 47

GenotypeQuality
all individuals: 4730
bin: 6.75e1
variant carriers: 105

GenotypeQuality
all individuals: 110
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 15

GenotypeQuality
all individuals: 629
bin: 9.25e1
variant carriers: 146

GenotypeQuality
all individuals: 23281
bin: 6.25e1
variant carriers: 82

GenotypeQuality
all individuals: 1957
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variant carriers: 66

GenotypeQuality
all individuals: 240
bin: 3.75e1
variant carriers: 38

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 10

GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 49

GenotypeQuality
all individuals: 294
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variant carriers: 24

GenotypeQuality
all individuals: 276
bin: 5.25e1
variant carriers: 65

GenotypeQuality
all individuals: 615
bin: 8.75e1
variant carriers: 94

GenotypeQuality
all individuals: 1513
bin: 8.25e1
variant carriers: 142

African
type: Population
allele count: 4784
allele frequency: 4.947259565667012e-1
allele num: 9670
num of homozygotes: 1204

Latino
type: Population
allele count: 2598
allele frequency: 2.272568229531141e-1
allele num: 11432
num of homozygotes: 315

European (Finnish)
type: Population
allele count: 1371
allele frequency: 2.081688430003037e-1
allele num: 6586
num of homozygotes: 136

European (Non-Finnish)
type: Population
allele count: 13630
allele frequency: 2.078060679981704e-1
allele num: 65590
num of homozygotes: 1440

East Asian
type: Population
allele count: 2029
allele frequency: 2.398912272404824e-1
allele num: 8458
num of homozygotes: 250

South Asian
type: Population
allele count: 1808
allele frequency: 1.100426049908704e-1
allele num: 16430
num of homozygotes: 108

Other
type: Population
allele count: 184
allele frequency: 2.058165548098434e-1
allele num: 894
num of homozygotes: 18

QD
type: SiteQuality
SIO_000300: 1.746e1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 6.02e-1

DP
type: SiteQuality
SIO_000300: 1.932493e6

GenotypeDepth
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3769
bin: 3.75e1
variant carriers: 15

GenotypeDepth
all individuals: 1312
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 814
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 520
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variant carriers: 2

GenotypeDepth
all individuals: 220
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variant carriers: 0

GenotypeDepth
all individuals: 94
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variant carriers: 0

GenotypeDepth
all individuals: 9357
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variant carriers: 8

GenotypeDepth
all individuals: 23278
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variant carriers: 5

GenotypeDepth
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 2469
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variant carriers: 0

GenotypeQuality
all individuals: 397
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variant carriers: 0

GenotypeQuality
all individuals: 144
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GenotypeQuality
all individuals: 2561
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 354
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GenotypeQuality
all individuals: 356
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 208
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GenotypeQuality
all individuals: 1278
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GenotypeQuality
all individuals: 1617
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GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 3035
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GenotypeQuality
all individuals: 236
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GenotypeQuality
all individuals: 1313
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GenotypeQuality
all individuals: 312
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GenotypeQuality
all individuals: 16078
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variant carriers: 110

GenotypeQuality
all individuals: 24168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5499
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.741228070175438e-4
allele num: 65664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172882946281961e-4
allele num: 8526
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 89
allele frequency: 5.411650249300742e-3
allele num: 16446
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.898e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.797e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

DP
type: SiteQuality
SIO_000300: 1.940808e6

GenotypeDepth
all individuals: 789
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
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variant carriers: 0

GenotypeDepth
all individuals: 2674
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2000
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variant carriers: 0

GenotypeDepth
all individuals: 143
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GenotypeDepth
all individuals: 220
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GenotypeDepth
all individuals: 23110
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GenotypeDepth
all individuals: 1316
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GenotypeDepth
all individuals: 327
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GenotypeDepth
all individuals: 3849
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GenotypeQuality
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GenotypeQuality
all individuals: 155
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GenotypeQuality
all individuals: 88
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GenotypeQuality
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GenotypeQuality
all individuals: 47
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GenotypeQuality
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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: 24
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GenotypeQuality
all individuals: 1382
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2622
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5599
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variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520588771972508e-5
allele num: 65764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.68e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.004e0

VQSLOD
type: SiteQuality
SIO_000300: -1.634e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

DP
type: SiteQuality
SIO_000300: 1.946055e6

GenotypeDepth
all individuals: 23015
bin: 2.25e1
variant carriers: 0