12-22665603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665603
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665603
    reference: chr 12
allele count: 1
allele frequency: 8.931761343336905e-5
allele num: 11196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+625C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1022C>T
  hgvsp: ENSP00000439392.1:p.Pro341Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1278C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+625C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+625C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.42C>T
  hgvsp: ENSP00000444857.1:p.Pro15Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+625C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+625C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+625C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+625C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+625C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro341Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-22665606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665606
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665606
    reference: chr 12
allele count: 2
allele frequency: 1.78826895565093e-4
allele num: 11184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+622C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1019C>T
  hgvsp: ENSP00000439392.1:p.Ser340Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+622C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+622C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.39C>T
  hgvsp: ENSP00000444857.1:p.Ser14Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+622C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+622C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+622C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1275C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+622C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+622C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser340Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

12-22665617-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665617
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665617
    reference: chr 12
allele count: 1
allele frequency: 9.015506671474937e-5
allele num: 11092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1012-4T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+611T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+611T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1268-4T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+611T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+611T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+611T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+611T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.32-4T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+611T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+611T>A
  variant of: http://identifiers.org/hgnc/29062
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1012-4T>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-22665620-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665620
    reference: chr 12
allele count: 2
allele frequency: 1.808645324651836e-4
allele num: 11058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+608T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+608T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1012-7T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+608T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+608T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+608T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1268-7T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+608T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+608T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.32-7T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+608T>G
  variant of: http://identifiers.org/hgnc/29062
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1012-7T>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-22665633-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665633
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665634
    reference: chr 12
allele count: 1245
allele frequency: 1.392929066905348e-1
allele num: 8938
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1012-21dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+594dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+594dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.32-21dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+594dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+594dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+594dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+594dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1268-21dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+594dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+594dupT
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.75e1
  variant carriers: 17
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

12-22665633-T-TAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665633
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665635
    reference: chr 12
allele count: 5
allele frequency: 5.594092638174089e-4
allele num: 8938
alternate allele: TAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.32-22_32-21dupTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+593_1011+594dupTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+593_1038+594dupTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1268-22_1268-21dupTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1012-22_1012-21dupTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+593_1038+594dupTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+593_1011+594dupTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+593_294+594dupTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+593_1038+594dupTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+593_417+594dupTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+593_446+594dupTT
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

12-22665633-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665633
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665632
    reference: chr 12
allele count: 2860
allele frequency: 3.199820989035578e-1
allele num: 8938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+594delT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+594delT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+594delT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+594delT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.32-21delT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1268-21delT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+594delT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+594delT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1012-21delT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+594delT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+594delT
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.25e1
  variant carriers: 604
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.75e1
  variant carriers: 370
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 539
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 645
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 98
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: TA
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-22665633-TAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665633
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665631
    reference: chr 12
allele count: 17
allele frequency: 1.90199149697919e-3
allele num: 8938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+593_1038+594delTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+593_417+594delTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+593_446+594delTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1268-22_1268-21delTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+593_1038+594delTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.32-22_32-21delTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+593_1038+594delTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+593_294+594delTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1012-22_1012-21delTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+593_1011+594delTT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+593_1011+594delTT
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: TAA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-22665644-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665644
    reference: chr 12
allele count: 4
allele frequency: 3.727171077152441e-4
allele num: 10732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+584T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+584T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1268-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.32-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+584T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1012-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+584T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+584T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+584T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+584T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+584T>C
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-22665644-AAGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665640
    reference: chr 12
allele count: 1
allele frequency: 9.317927692881103e-5
allele num: 10732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+580_1011+583delCTCT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.32-35_32-32delCTCT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+580_294+583delCTCT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1268-35_1268-32delCTCT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+580_446+583delCTCT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+580_1038+583delCTCT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1012-35_1012-32delCTCT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+580_417+583delCTCT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+580_1011+583delCTCT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+580_1038+583delCTCT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+580_1038+583delCTCT
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: AAGAG
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-22665653-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665653
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665653
    reference: chr 12
allele count: 1
allele frequency: 9.237021984112322e-5
allele num: 10826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+575T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+575T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+575T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+575T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+575T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1268-40T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+575T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+575T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1012-40T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+575T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.32-40T>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-22665656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22665656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22665656
    reference: chr 12
allele count: 1
allele frequency: 9.254118082546733e-5
allele num: 10806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+572C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+572C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+572C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.32-43C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+572C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1268-43C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+572C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+572C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1012-43C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+572C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+572C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-22666183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666183
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666183
    reference: chr 12
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+45C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+45C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+45C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+45C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+45C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+45C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+45C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1267+45C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1011+45C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.31+45C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+45C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

12-22666184-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666184
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666184
    reference: chr 12
allele count: 3
allele frequency: 2.478929102627665e-5
allele num: 121020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1267+44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1011+44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.31+44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+44A>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10250
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-22666196-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666196
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666196
    reference: chr 12
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+32A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1011+32A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+32A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+32A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.31+32A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1267+32A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+32A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+32A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+32A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+32A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+32A>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

12-22666197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666197
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666197
    reference: chr 12
allele count: 15
allele frequency: 1.239628442034974e-4
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1011+31C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+31C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.31+31C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+31C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+31C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+31C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1267+31C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+31C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+31C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+31C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+31C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9546
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-22666199-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666199
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666199
    reference: chr 12
allele count: 2
allele frequency: 1.652018766933192e-5
allele num: 121064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+29T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.31+29T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+29T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+29T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+29T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+29T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+29T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+29T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1011+29T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+29T>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1267+29T>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

12-22666212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666212
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666212
    reference: chr 12
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1267+16T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+16T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+16T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+16T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+16T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+16T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+16T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.31+16T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+16T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+16T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1011+16T>C
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

12-22666219-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666219
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666219
    reference: chr 12
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+9C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+9C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.31+9C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+9C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+9C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+9C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1267+9C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1011+9C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+9C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+9C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+9C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

12-22666219-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666219
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666219
    reference: chr 12
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.1011+9C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.417+9C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.446+9C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1267+9C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.1011+9C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.294+9C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.1011+9C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.31+9C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1038+9C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1038+9C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1038+9C>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

12-22666240-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666240
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666240
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.19G>A
  hgvsp: ENST00000535555.1:c.19G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1255G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.405G>A
  hgvsp: ENST00000544930.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.999G>A
  hgvsp: ENST00000545552.1:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.434G>A
  hgvsp: ENST00000542683.1:c.434G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1026G>A
  hgvsp: ENST00000446597.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1026G>A
  hgvsp: ENST00000333957.4:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.282G>A
  hgvsp: ENST00000544281.1:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.999G>A
  hgvsp: ENST00000536386.1:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1026G>A
  hgvsp: ENST00000542676.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.999G>A
  hgvsp: ENST00000396028.2:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala342Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-22666241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666241
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666241
    reference: chr 12
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.433C>T
  hgvsp: ENSP00000438256.1:p.Ala145Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1025C>T
  hgvsp: ENSP00000388756.1:p.Ala342Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.18C>T
  hgvsp: ENSP00000444857.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1025C>T
  hgvsp: ENSP00000334229.4:p.Ala342Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1254C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.998C>T
  hgvsp: ENSP00000439392.1:p.Ala333Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.998C>T
  hgvsp: ENSP00000379345.2:p.Ala333Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.998C>T
  hgvsp: ENSP00000443204.1:p.Ala333Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.404C>T
  hgvsp: ENSP00000445288.1:p.Ala135Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.281C>T
  hgvsp: ENSP00000443479.1:p.Ala94Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1025C>T
  hgvsp: ENSP00000441951.1:p.Ala342Val
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala342Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-22666242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666242
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666242
    reference: chr 12
allele count: 3
allele frequency: 2.472921509471289e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.17G>A
  hgvsp: ENSP00000444857.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.403G>A
  hgvsp: ENSP00000445288.1:p.Ala135Thr
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.280G>A
  hgvsp: ENSP00000443479.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1024G>A
  hgvsp: ENSP00000388756.1:p.Ala342Thr
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.997G>A
  hgvsp: ENSP00000443204.1:p.Ala333Thr
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1024G>A
  hgvsp: ENSP00000441951.1:p.Ala342Thr
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.432G>A
  hgvsp: ENSP00000438256.1:p.Ala145Thr
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1024G>A
  hgvsp: ENSP00000334229.4:p.Ala342Thr
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.997G>A
  hgvsp: ENSP00000379345.2:p.Ala333Thr
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.997G>A
  hgvsp: ENSP00000439392.1:p.Ala333Thr
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1253G>A
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala342Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

12-22666243-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666243
    reference: chr 12
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1252A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1023A>C
  hgvsp: ENST00000333957.4:c.1023A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.16A>C
  hgvsp: ENST00000535555.1:c.16A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.279A>C
  hgvsp: ENST00000544281.1:c.279A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1023A>C
  hgvsp: ENST00000542676.1:c.1023A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.431A>C
  hgvsp: ENST00000542683.1:c.431A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.996A>C
  hgvsp: ENST00000536386.1:c.996A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.402A>C
  hgvsp: ENST00000544930.1:c.402A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.996A>C
  hgvsp: ENST00000545552.1:c.996A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1023A>C
  hgvsp: ENST00000446597.1:c.1023A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.996A>C
  hgvsp: ENST00000396028.2:c.996A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser341Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

12-22666244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666244
    reference: chr 12
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1251C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.401C>T
  hgvsp: ENSP00000445288.1:p.Ser134Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.995C>T
  hgvsp: ENSP00000379345.2:p.Ser332Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1022C>T
  hgvsp: ENSP00000334229.4:p.Ser341Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1022C>T
  hgvsp: ENSP00000388756.1:p.Ser341Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.430C>T
  hgvsp: ENSP00000438256.1:p.Ser144Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.995C>T
  hgvsp: ENSP00000439392.1:p.Ser332Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.278C>T
  hgvsp: ENSP00000443479.1:p.Ser93Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.995C>T
  hgvsp: ENSP00000443204.1:p.Ser332Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1022C>T
  hgvsp: ENSP00000441951.1:p.Ser341Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.15C>T
  hgvsp: ENSP00000444857.1:p.Ser6Leu
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser341Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-22666255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666255
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666255
    reference: chr 12
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1011A>G
  hgvsp: ENST00000542676.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1011A>G
  hgvsp: ENST00000333957.4:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1240A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000444857
  ensembl transcript: ENST00000535555
  gene symbol: C2CD5
  hgvsc: ENST00000535555.1:c.4A>G
  hgvsp: ENST00000535555.1:c.4A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.984A>G
  hgvsp: ENST00000536386.1:c.984A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.984A>G
  hgvsp: ENST00000396028.2:c.984A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.267A>G
  hgvsp: ENST00000544281.1:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.390A>G
  hgvsp: ENST00000544930.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1011A>G
  hgvsp: ENST00000446597.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.984A>G
  hgvsp: ENST00000545552.1:c.984A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.419A>G
  hgvsp: ENST00000542683.1:c.419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln337Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-22666263-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666263
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666263
    reference: chr 12
allele count: 719
allele frequency: 5.928918941205574e-3
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.1003T>C
  hgvsp: ENST00000542676.1:c.1003T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.976T>C
  hgvsp: ENST00000536386.1:c.976T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.259T>C
  hgvsp: ENST00000544281.1:c.259T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.976T>C
  hgvsp: ENST00000396028.2:c.976T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.1003T>C
  hgvsp: ENST00000333957.4:c.1003T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.976T>C
  hgvsp: ENST00000545552.1:c.976T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1232T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.382T>C
  hgvsp: ENST00000544930.1:c.382T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.411T>C
  hgvsp: ENST00000542683.1:c.411T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.1003T>C
  hgvsp: ENST00000446597.1:c.1003T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 9.75e1
  variant carriers: 571
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11597
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu335Leu
num of homozygotes: 7
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-22666278-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666278
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666279
    reference: chr 12
allele count: 2
allele frequency: 1.650056101907465e-5
allele num: 121208
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.960dupG
  hgvsp: ENSP00000379345.2:p.Pro321AlafsTer3
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.987dupG
  hgvsp: ENSP00000334229.4:p.Pro330AlafsTer3
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.960dupG
  hgvsp: ENSP00000439392.1:p.Pro321AlafsTer3
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1216dupG
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.960dupG
  hgvsp: ENSP00000443204.1:p.Pro321AlafsTer3
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.243dupG
  hgvsp: ENSP00000443479.1:p.Pro82AlafsTer3
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.395dupG
  hgvsp: ENSP00000438256.1:p.Pro133AlafsTer3
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.987dupG
  hgvsp: ENSP00000441951.1:p.Pro330AlafsTer3
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.987dupG
  hgvsp: ENSP00000388756.1:p.Pro330AlafsTer3
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.366dupG
  hgvsp: ENSP00000445288.1:p.Pro123AlafsTer3
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro330AlafsTer3
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-22666279-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666279
    reference: chr 12
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1216G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.987G>T
  hgvsp: ENST00000446597.1:c.987G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.960G>T
  hgvsp: ENST00000396028.2:c.960G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.987G>T
  hgvsp: ENST00000542676.1:c.987G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.243G>T
  hgvsp: ENST00000544281.1:c.243G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.395G>T
  hgvsp: ENST00000542683.1:c.395G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.987G>T
  hgvsp: ENST00000333957.4:c.987G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.960G>T
  hgvsp: ENST00000536386.1:c.960G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.960G>T
  hgvsp: ENST00000545552.1:c.960G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.366G>T
  hgvsp: ENST00000544930.1:c.366G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly329Gly
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-22666279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666279
    reference: chr 12
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.395G>A
  hgvsp: ENST00000542683.1:c.395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1216G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.987G>A
  hgvsp: ENST00000446597.1:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.366G>A
  hgvsp: ENST00000544930.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.960G>A
  hgvsp: ENST00000545552.1:c.960G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.987G>A
  hgvsp: ENST00000542676.1:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.243G>A
  hgvsp: ENST00000544281.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.987G>A
  hgvsp: ENST00000333957.4:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.960G>A
  hgvsp: ENST00000396028.2:c.960G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.960G>A
  hgvsp: ENST00000536386.1:c.960G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly329Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-22671060-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22671060
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22671060
    reference: chr 12
allele count: 4
allele frequency: 3.295272930980509e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.812A>G
  hgvsp: ENSP00000388756.1:p.Asn271Ser
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+989A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.220A>G
  hgvsp: ENSP00000438256.1:p.Asn74Ser
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.812A>G
  hgvsp: ENSP00000334229.4:p.Asn271Ser
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000540703
  gene symbol: C2CD5
  hgvsc: ENST00000540703.1:n.655A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.812A>G
  hgvsp: ENSP00000441951.1:p.Asn271Ser
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+989A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+989A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+989A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+989A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4736A>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn271Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-22666283-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666283
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666283
    reference: chr 12
allele count: 55
allele frequency: 4.539451964344668e-4
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.983G>T
  hgvsp: ENSP00000441951.1:p.Gly328Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.362G>T
  hgvsp: ENSP00000445288.1:p.Gly121Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.983G>T
  hgvsp: ENSP00000388756.1:p.Gly328Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.956G>T
  hgvsp: ENSP00000439392.1:p.Gly319Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.956G>T
  hgvsp: ENSP00000379345.2:p.Gly319Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.239G>T
  hgvsp: ENSP00000443479.1:p.Gly80Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.956G>T
  hgvsp: ENSP00000443204.1:p.Gly319Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1212G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.983G>T
  hgvsp: ENSP00000334229.4:p.Gly328Val
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.391G>T
  hgvsp: ENSP00000438256.1:p.Gly131Val
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly328Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-22666284-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666284
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666284
    reference: chr 12
allele count: 55
allele frequency: 4.539227175940445e-4
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1211G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.955G>T
  hgvsp: ENSP00000379345.2:p.Gly319Trp
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.238G>T
  hgvsp: ENSP00000443479.1:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.361G>T
  hgvsp: ENSP00000445288.1:p.Gly121Trp
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.390G>T
  hgvsp: ENSP00000438256.1:p.Gly131Trp
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.955G>T
  hgvsp: ENSP00000443204.1:p.Gly319Trp
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.982G>T
  hgvsp: ENSP00000441951.1:p.Gly328Trp
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.982G>T
  hgvsp: ENSP00000334229.4:p.Gly328Trp
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.982G>T
  hgvsp: ENSP00000388756.1:p.Gly328Trp
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.955G>T
  hgvsp: ENSP00000439392.1:p.Gly319Trp
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly328Trp
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-22666284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666284
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666284
    reference: chr 12
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.955G>A
  hgvsp: ENSP00000443204.1:p.Gly319Arg
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.982G>A
  hgvsp: ENSP00000441951.1:p.Gly328Arg
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.238G>A
  hgvsp: ENSP00000443479.1:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.982G>A
  hgvsp: ENSP00000334229.4:p.Gly328Arg
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.361G>A
  hgvsp: ENSP00000445288.1:p.Gly121Arg
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.955G>A
  hgvsp: ENSP00000379345.2:p.Gly319Arg
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.955G>A
  hgvsp: ENSP00000439392.1:p.Gly319Arg
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.982G>A
  hgvsp: ENSP00000388756.1:p.Gly328Arg
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.390G>A
  hgvsp: ENSP00000438256.1:p.Gly131Arg
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1211G>A
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly328Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-22666291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666291
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666291
    reference: chr 12
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.948A>G
  hgvsp: ENST00000396028.2:c.948A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.948A>G
  hgvsp: ENST00000545552.1:c.948A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.975A>G
  hgvsp: ENST00000333957.4:c.975A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.383A>G
  hgvsp: ENST00000542683.1:c.383A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.231A>G
  hgvsp: ENST00000544281.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.948A>G
  hgvsp: ENST00000536386.1:c.948A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.975A>G
  hgvsp: ENST00000542676.1:c.975A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.354A>G
  hgvsp: ENST00000544930.1:c.354A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1204A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.975A>G
  hgvsp: ENST00000446597.1:c.975A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly325Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

12-22666294-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666294
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666294
    reference: chr 12
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.972T>C
  hgvsp: ENST00000446597.1:c.972T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.972T>C
  hgvsp: ENST00000333957.4:c.972T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.228T>C
  hgvsp: ENST00000544281.1:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.945T>C
  hgvsp: ENST00000545552.1:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1201T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.351T>C
  hgvsp: ENST00000544930.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.380T>C
  hgvsp: ENST00000542683.1:c.380T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.945T>C
  hgvsp: ENST00000396028.2:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.945T>C
  hgvsp: ENST00000536386.1:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.972T>C
  hgvsp: ENST00000542676.1:c.972T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala324Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

12-22666298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666298
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666298
    reference: chr 12
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1197G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.376G>A
  hgvsp: ENSP00000438256.1:p.Ser126Asn
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.224G>A
  hgvsp: ENSP00000443479.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.968G>A
  hgvsp: ENSP00000441951.1:p.Ser323Asn
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.941G>A
  hgvsp: ENSP00000443204.1:p.Ser314Asn
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.347G>A
  hgvsp: ENSP00000445288.1:p.Ser116Asn
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.968G>A
  hgvsp: ENSP00000334229.4:p.Ser323Asn
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.968G>A
  hgvsp: ENSP00000388756.1:p.Ser323Asn
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.941G>A
  hgvsp: ENSP00000379345.2:p.Ser314Asn
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.941G>A
  hgvsp: ENSP00000439392.1:p.Ser314Asn
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser323Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

12-22666318-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666318
    reference: chr 12
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.361-5T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1182-5T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.953-5T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.953-5T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.953-5T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.204T>A
  hgvsp: ENST00000544281.1:c.204T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.332-5T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.926-5T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.926-5T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.926-5T>A
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.25e1
  variant carriers: 0
hgvs: c.953-5T>A
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-22666325-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666325
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666325
    reference: chr 12
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.361-12G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.926-12G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.926-12G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.953-12G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-1G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.953-12G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1182-12G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.953-12G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.926-12G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.332-12G>T
  variant of: http://identifiers.org/hgnc/29062
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 8.25e1
  variant carriers: 0
hgvs: c.198-1G>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-22666342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666342
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666342
    reference: chr 12
allele count: 3
allele frequency: 2.49260527102928e-5
allele num: 120356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.332-29G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.953-29G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.953-29G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.953-29G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.361-29G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-18G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.926-29G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.926-29G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1182-29G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.926-29G>A
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26398
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-22666344-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666344
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666344
    reference: chr 12
allele count: 23
allele frequency: 1.911855164502668e-4
allele num: 120302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.926-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.332-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.953-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-20T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1182-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.926-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.953-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.953-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.361-31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.926-31T>C
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8166
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

12-22666351-CAACTATAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666351
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666342
    reference: chr 12
allele count: 12
allele frequency: 9.991008092716555e-5
allele num: 120108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: CAACTATAGA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

12-22666357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666357
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666357
    reference: chr 12
allele count: 6
allele frequency: 5.003168673493213e-5
allele num: 119924
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.361-44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.926-44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.953-44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.953-44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1182-44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.332-44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.926-44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.953-44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.926-44A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-33A>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-22666359-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666359
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666359
    reference: chr 12
allele count: 4
allele frequency: 3.33717108007542e-5
allele num: 119862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.953-46C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-35C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.926-46C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.361-46C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.926-46C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.953-46C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.332-46C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.926-46C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.953-46C>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1182-46C>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-22666373-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22666373
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22666373
    reference: chr 12
allele count: 1
allele frequency: 8.367640660039494e-6
allele num: 119508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1182-60A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.953-60A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.926-60A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.953-60A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.332-60A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-49A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.926-60A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.926-60A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.953-60A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.361-60A>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-22670876-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670876
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670875
    reference: chr 12
allele count: 1
allele frequency: 8.413400864897609e-6
allele num: 118858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1172delA
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1172delA
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1172delA
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.952+43delA
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1172delA
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.360+43delA
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4553delA
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1172delA
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.952+43delA
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.952+43delA
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: AT
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-22670888-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670888
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670889
    reference: chr 12
allele count: 24
allele frequency: 2.003071376110035e-4
allele num: 119816
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.952+31dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1160dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1160dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4565dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.952+31dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1160dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1160dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.952+31dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.360+31dupT
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1160dupT
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

12-22670889-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670889
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670889
    reference: chr 12
allele count: 1
allele frequency: 8.338892595063375e-6
allele num: 119920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.952+31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1160T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1160T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1160T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1160T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1160T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.952+31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.360+31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.952+31T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4565T>C
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

12-22670898-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670898
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670898
    reference: chr 12
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1151T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1151T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1151T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1151T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1151T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4574T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.952+22T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.952+22T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.360+22T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.952+22T>A
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

12-22670901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670901
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670901
    reference: chr 12
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1148C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1148C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.952+19C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.952+19C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4577C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1148C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1148C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1148C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.360+19C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.952+19C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32060
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-22670902-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670902
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670902
    reference: chr 12
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1147A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1147A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.360+18A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1147A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1147A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.952+18A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4578A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.952+18A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.952+18A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1147A>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

12-22670907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670907
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670907
    reference: chr 12
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.360+13C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.952+13C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1142C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1142C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1142C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.952+13C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1142C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.952+13C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1142C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4583C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-22670910-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670910
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670910
    reference: chr 12
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.952+10T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1139T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.952+10T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.952+10T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1139T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.360+10T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1139T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1139T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4586T>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1139T>A
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11138
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-22670912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670912
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670912
    reference: chr 12
allele count: 13
allele frequency: 1.071228451827681e-4
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.952+8G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.952+8G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.360+8G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1137G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1137G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.952+8G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1137G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4588G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1137G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1137G>A
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 32071
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: c.952+8G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-22670913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670913
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670913
    reference: chr 12
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.360+7C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1136C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.952+7C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.952+7C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.952+7C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1136C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4589C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1136C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1136C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1136C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: c.952+7C>T
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

12-22670930-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670930
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670930
    reference: chr 12
allele count: 19
allele frequency: 1.56507413509061e-4
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.942A>C
  hgvsp: ENST00000446597.1:c.942A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1119A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.942A>C
  hgvsp: ENST00000542676.1:c.942A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4606A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1119A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1119A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.942A>C
  hgvsp: ENST00000333957.4:c.942A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1119A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.350A>C
  hgvsp: ENST00000542683.1:c.350A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1119A>C
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr314Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-22670945-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670945
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670945
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.927A>G
  hgvsp: ENST00000542676.1:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.927A>G
  hgvsp: ENST00000446597.1:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4621A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.927A>G
  hgvsp: ENST00000333957.4:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1104A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1104A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1104A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1104A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.335A>G
  hgvsp: ENST00000542683.1:c.335A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1104A>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr309Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-22670956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670956
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670956
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4632T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.916T>C
  hgvsp: ENSP00000441951.1:p.Ser306Pro
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.324T>C
  hgvsp: ENSP00000438256.1:p.Ser109Pro
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1093T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.916T>C
  hgvsp: ENSP00000388756.1:p.Ser306Pro
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1093T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1093T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.916T>C
  hgvsp: ENSP00000334229.4:p.Ser306Pro
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1093T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1093T>C
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser306Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-22670961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670961
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670961
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4637C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1088C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1088C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1088C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.319C>T
  hgvsp: ENSP00000438256.1:p.Ser107Phe
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1088C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.911C>T
  hgvsp: ENSP00000388756.1:p.Ser304Phe
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.911C>T
  hgvsp: ENSP00000441951.1:p.Ser304Phe
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.911C>T
  hgvsp: ENSP00000334229.4:p.Ser304Phe
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1088C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32080
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser304Phe
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-22670963-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670963
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670963
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4639G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.909G>T
  hgvsp: ENSP00000388756.1:p.Gln303His
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.317G>T
  hgvsp: ENSP00000438256.1:p.Gln106His
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.909G>T
  hgvsp: ENSP00000334229.4:p.Gln303His
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1086G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1086G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1086G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1086G>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.909G>T
  hgvsp: ENSP00000441951.1:p.Gln303His
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1086G>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln303His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-22670964-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670964
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670964
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1085A>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1085A>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1085A>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.908A>T
  hgvsp: ENSP00000388756.1:p.Gln303Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.316A>T
  hgvsp: ENSP00000438256.1:p.Gln106Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4640A>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.908A>T
  hgvsp: ENSP00000334229.4:p.Gln303Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.908A>T
  hgvsp: ENSP00000441951.1:p.Gln303Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1085A>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1085A>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln303Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-22670967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670967
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670967
    reference: chr 12
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4643G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.313G>A
  hgvsp: ENSP00000438256.1:p.Arg105Gln
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1082G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1082G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1082G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.905G>A
  hgvsp: ENSP00000441951.1:p.Arg302Gln
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.905G>A
  hgvsp: ENSP00000388756.1:p.Arg302Gln
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.905G>A
  hgvsp: ENSP00000334229.4:p.Arg302Gln
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1082G>A
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1082G>A
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg302Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

12-22670968-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670968
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670968
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1081C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4644C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.904C>T
  hgvsp: ENSP00000388756.1:p.Arg302Ter
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.904C>T
  hgvsp: ENSP00000441951.1:p.Arg302Ter
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1081C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.312C>T
  hgvsp: ENSP00000438256.1:p.Arg105Ter
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1081C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.904C>T
  hgvsp: ENSP00000334229.4:p.Arg302Ter
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1081C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1081C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg302Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-22670973-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670973
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670973
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1076A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.899A>G
  hgvsp: ENSP00000388756.1:p.Tyr300Cys
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1076A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1076A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4649A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.307A>G
  hgvsp: ENSP00000438256.1:p.Tyr103Cys
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1076A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1076A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.899A>G
  hgvsp: ENSP00000441951.1:p.Tyr300Cys
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.899A>G
  hgvsp: ENSP00000334229.4:p.Tyr300Cys
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr300Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-22670980-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670980
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670980
    reference: chr 12
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1069A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.892A>G
  hgvsp: ENSP00000441951.1:p.Lys298Glu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.892A>G
  hgvsp: ENSP00000334229.4:p.Lys298Glu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4656A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.892A>G
  hgvsp: ENSP00000388756.1:p.Lys298Glu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.300A>G
  hgvsp: ENSP00000438256.1:p.Lys101Glu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1069A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1069A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1069A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1069A>G
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys298Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-22670980-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670980
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670980
    reference: chr 12
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4656A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1069A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.892A>C
  hgvsp: ENSP00000388756.1:p.Lys298Gln
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.892A>C
  hgvsp: ENSP00000334229.4:p.Lys298Gln
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1069A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.300A>C
  hgvsp: ENSP00000438256.1:p.Lys101Gln
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1069A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1069A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1069A>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.892A>C
  hgvsp: ENSP00000441951.1:p.Lys298Gln
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys298Gln
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-22670988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670988
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670988
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1061C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4664C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1061C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1061C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.884C>T
  hgvsp: ENSP00000388756.1:p.Ser295Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.884C>T
  hgvsp: ENSP00000334229.4:p.Ser295Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.292C>T
  hgvsp: ENSP00000438256.1:p.Ser98Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.884C>T
  hgvsp: ENSP00000441951.1:p.Ser295Leu
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1061C>T
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1061C>T
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser295Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-22670996-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22670996
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22670996
    reference: chr 12
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000439392
  ensembl transcript: ENST00000536386
  gene symbol: C2CD5
  hgvsc: ENST00000536386.1:c.925+1053T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000388756
  ensembl transcript: ENST00000446597
  gene symbol: C2CD5
  hgvsc: ENST00000446597.1:c.876T>C
  hgvsp: ENST00000446597.1:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1053T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000445288
  ensembl transcript: ENST00000544930
  gene symbol: C2CD5
  hgvsc: ENST00000544930.1:c.331+1053T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443204
  ensembl transcript: ENST00000545552
  gene symbol: C2CD5
  hgvsc: ENST00000545552.1:c.925+1053T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000443479
  ensembl transcript: ENST00000544281
  gene symbol: C2CD5
  hgvsc: ENST00000544281.1:c.198-4672T>C
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000441951
  ensembl transcript: ENST00000542676
  gene symbol: C2CD5
  hgvsc: ENST00000542676.1:c.876T>C
  hgvsp: ENST00000542676.1:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.284T>C
  hgvsp: ENST00000542683.1:c.284T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.876T>C
  hgvsp: ENST00000333957.4:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl transcript: ENST00000541310
  gene symbol: C2CD5
  hgvsc: ENST00000541310.1:n.1181+1053T>C
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr292Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-22671002-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22671002
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 22671002
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000379345
  ensembl transcript: ENST00000396028
  gene symbol: C2CD5
  hgvsc: ENST00000396028.2:c.925+1047A>G
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000438256
  ensembl transcript: ENST00000542683
  gene symbol: C2CD5
  hgvsc: ENST00000542683.1:c.278A>G
  hgvsp: ENST00000542683.1:c.278A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111731
  ensembl protein: ENSP00000334229
  ensembl transcript: ENST00000333957
  gene symbol: C2CD5
  hgvsc: ENST00000333957.4:c.870A>G
  hgvsp: ENST00000333957.4:c.870A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29062
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
hgvs: p.Gln290Gln
num of homozygotes: 0
reference allele: T

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

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.371544167228591e-4
allele num: 2966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.691e0

MQ
type: SiteQuality
SIO_000300: 6.024e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.223e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 1.92879e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
SIO_000300: 9.321999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 464
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.329080276448698e-4
allele num: 7524
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.067484662576687e-3
allele num: 326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e0

DP
type: SiteQuality
SIO_000300: 1.92712e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

QD
type: SiteQuality
SIO_000300: 9.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

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

GenotypeQuality
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1395
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.330494944119212e-4
allele num: 7516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

DP
type: SiteQuality
SIO_000300: 1.91756e5

MQ
type: SiteQuality
SIO_000300: 6.057e1

FS
type: SiteQuality
SIO_000300: 3.18e0

VQSLOD
type: SiteQuality
SIO_000300: -5.236e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
type: SiteQuality
SIO_000300: 9.02e0

GenotypeQuality
all individuals: 1109
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 311
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variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.662406815761449e-4
allele num: 7512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

FS
type: SiteQuality
SIO_000300: 3.857e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

DP
type: SiteQuality
SIO_000300: 1.91541e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 24

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 23

GenotypeQuality
all individuals: 337
bin: 2.25e1
variant carriers: 41

GenotypeQuality
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bin: 2.75e1
variant carriers: 29

GenotypeQuality
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bin: 2.5e0
variant carriers: 33

GenotypeQuality
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bin: 6.75e1
variant carriers: 18

GenotypeQuality
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bin: 1.25e1
variant carriers: 48

GenotypeQuality
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bin: 5.75e1
variant carriers: 31

GenotypeQuality
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bin: 3.25e1
variant carriers: 27

GenotypeQuality
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bin: 9.75e1
variant carriers: 905

GenotypeQuality
all individuals: 991
bin: 7.5e0
variant carriers: 43

GenotypeQuality
all individuals: 127
bin: 7.25e1
variant carriers: 16

GenotypeQuality
all individuals: 231
bin: 1.75e1
variant carriers: 41

GenotypeQuality
all individuals: 153
bin: 6.25e1
variant carriers: 21

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 28

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 21

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 19

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 28

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 30

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 1.208791208791209e-1
allele num: 182
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 1.279069767441861e-1
allele num: 86
num of homozygotes: 0

Other
type: Population
allele count: 14
allele frequency: 1.372549019607843e-1
allele num: 102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 284
allele frequency: 1.261101243339254e-1
allele num: 2252
num of homozygotes: 0

South Asian
type: Population
allele count: 912
allele frequency: 1.469072164948454e-1
allele num: 6208
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 1.851851851851852e-2
allele num: 108
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

QD
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

FS
type: SiteQuality
SIO_000300: 1.706e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.06526e5

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 136
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 187
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variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
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variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.440497335701599e-4
allele num: 2252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 6.443298969072165e-4
allele num: 6208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.06526e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 1.706e0

QD
type: SiteQuality
SIO_000300: 3.23e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 86

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 132

GenotypeQuality
all individuals: 260
bin: 1.25e1
variant carriers: 106

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 111

GenotypeQuality
all individuals: 127
bin: 7.25e1
variant carriers: 107

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1231

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 109

GenotypeQuality
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bin: 7.75e1
variant carriers: 114

African
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allele count: 54
allele frequency: 2.967032967032967e-1
allele num: 182
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 3.13953488372093e-1
allele num: 86
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 710
allele frequency: 3.152753108348135e-1
allele num: 2252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 33
allele frequency: 3.235294117647059e-1
allele num: 102
num of homozygotes: 0

East Asian
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allele count: 45
allele frequency: 4.166666666666667e-1
allele num: 108
num of homozygotes: 0

South Asian
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allele count: 1991
allele frequency: 3.20715206185567e-1
allele num: 6208
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ClippingRankSum
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SIO_000300: -2.83e-1

MQRankSum
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SIO_000300: 3.49e-1

MQ
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VQSLOD
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ReadPosRankSum
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SIO_000300: -6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

FS
type: SiteQuality
SIO_000300: 1.706e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 3.23e0

DP
type: SiteQuality
SIO_000300: 2.06526e5

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 2.664298401420959e-3
allele num: 2252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.610824742268041e-3
allele num: 6208
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.494505494505495e-3
allele num: 182
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

FS
type: SiteQuality
SIO_000300: 1.706e0

DP
type: SiteQuality
SIO_000300: 2.06526e5

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 3.23e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 4.046398705152414e-4
allele num: 7414
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 136
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.020408163265306e-2
allele num: 98
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 4.746e0

DP
type: SiteQuality
SIO_000300: 2.02705e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.87e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

GenotypeQuality
all individuals: 108
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 258
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.65764447695684e-4
allele num: 2734
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.045e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.02705e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.87e-2

FS
type: SiteQuality
SIO_000300: 4.746e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.54e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 118
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.462686567164179e-3
allele num: 134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.78e-2

MQ
type: SiteQuality
SIO_000300: 5.792e1

QD
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 8.919e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

DP
type: SiteQuality
SIO_000300: 1.78775e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.843e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.020408163265306e-2
allele num: 98
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2750
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

QD
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SIO_000300: 1.634e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQ
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MQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.77803e5

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511413877109086e-5
allele num: 66498
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.229e0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.592798e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

QD
type: SiteQuality
SIO_000300: 1.627e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 1.8413e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26653
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 2.600619e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

QD
type: SiteQuality
SIO_000300: 7.85e0

VQSLOD
type: SiteQuality
SIO_000300: -4.116e-1

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 15

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.503849855630414e-4
allele num: 66496
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: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.038774766014343e-4
allele num: 16454
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

FS
type: SiteQuality
SIO_000300: 1.064e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 2.601434e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.043e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11153
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 9.085000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.602168e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.221e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.466e1

GenotypeQuality
all individuals: 2189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5050
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2450
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

QD
type: SiteQuality
SIO_000300: 1.47e1

FS
type: SiteQuality
SIO_000300: 1.845e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

DP
type: SiteQuality
SIO_000300: 2.606781e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212709192335678e-4
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.926e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

DP
type: SiteQuality
SIO_000300: 2.608409e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.637e0

FS
type: SiteQuality
SIO_000300: 2.247e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.926e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.247e0

QD
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SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 2.608409e6

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 2184
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 16504
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
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SIO_000300: -8.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.061e0

FS
type: SiteQuality
SIO_000300: 5.649e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 2.609468e6

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26647
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 7.016e0

QD
type: SiteQuality
SIO_000300: 1.258e1

DP
type: SiteQuality
SIO_000300: 2.609671e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 8.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 6.726e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.907e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 1.012e1

VQSLOD
type: SiteQuality
SIO_000300: -3.92e-1

DP
type: SiteQuality
SIO_000300: 2.609743e6

GenotypeDepth
all individuals: 8537
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11705
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 4085
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26648
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.669e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

FS
type: SiteQuality
SIO_000300: 1.517e0

QD
type: SiteQuality
SIO_000300: 1.233e1

DP
type: SiteQuality
SIO_000300: 2.609503e6

GenotypeDepth
all individuals: 4154
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11704
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5062
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26647
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2184
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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: 10392
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.609473e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.962e0

MQRankSum
type: SiteQuality
SIO_000300: -1.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.313e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 4.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

GenotypeDepth
all individuals: 6725
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4170
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 4086
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variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26646
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4266
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5062
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11722
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

MQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.609471e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.6e-1

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

GenotypeQuality
all individuals: 2165
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 2440
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4237
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 26856
bin: 9.75e1
variant carriers: 712

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 4061
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4126
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5027
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 31
allele frequency: 4.692703602785346e-3
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 91
allele frequency: 7.869249394673124e-3
allele num: 11564
num of homozygotes: 1

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 418
allele frequency: 6.270627062706271e-3
allele num: 66660
num of homozygotes: 2

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

South Asian
type: Population
allele count: 166
allele frequency: 1.005938674100109e-2
allele num: 16502
num of homozygotes: 4

African
type: Population
allele count: 7
allele frequency: 6.742438836447698e-4
allele num: 10382
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.670345e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

QD
type: SiteQuality
SIO_000300: 1.356e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 4100
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11717
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 2466
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 4169
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GenotypeQuality
all individuals: 5084
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

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

GenotypeQuality
all individuals: 26424
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.109e-1

MQ
type: SiteQuality
SIO_000300: 6.008e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 3.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.061e0

DP
type: SiteQuality
SIO_000300: 2.603213e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.378e0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2463
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
all individuals: 162
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4291
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variant carriers: 0

GenotypeQuality
all individuals: 26423
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.859e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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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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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.002191599867904e-5
allele num: 66618
num of homozygotes: 0

Latino
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FS
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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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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.04e0

BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 3
allele frequency: 2.595604775912787e-4
allele num: 11558
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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allele frequency: 0.0e0
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VQSLOD
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ClippingRankSum
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DP
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FS
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QD
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ReadPosRankSum
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MQRankSum
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SIO_000300: -4.84e-1

MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 55

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

European (Non-Finnish)
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allele count: 11
allele frequency: 1.651651651651652e-4
allele num: 66600
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 40
allele frequency: 2.425418384671356e-3
allele num: 16492
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 1.105e0

VQSLOD
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BaseQRankSum
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SIO_000300: -1.069e0

MQ
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SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 2.605747e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 40
allele frequency: 2.425418384671356e-3
allele num: 16492
num of homozygotes: 0

Other
type: Population
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allele num: 904
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.651602053992372e-4
allele num: 66602
num of homozygotes: 0

African
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Latino
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allele num: 11562
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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allele frequency: 0.0e0
allele num: 16492
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African
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East Asian
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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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allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
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European (Finnish)
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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Other
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African
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
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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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Other
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.00724746639401e-5
allele num: 66506
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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FS
type: SiteQuality
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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SIO_000300: -3.104e0

ClippingRankSum
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SIO_000300: -2.58e-1

DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
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SIO_000300: -3.5e-2

MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
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MQ
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FS
type: SiteQuality
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VQSLOD
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.886e0

VQSLOD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 8.080000000000001e-1

QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.533913674283642e-5
allele num: 66168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.324e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.188e0

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 2.584599e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.41925728801258e-4
allele num: 66136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.108202443280978e-4
allele num: 11460
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.003e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 1.491e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 10
allele frequency: 1.514646632940535e-4
allele num: 66022
num of homozygotes: 0

Latino
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allele frequency: 1.748557440111908e-4
allele num: 11438
num of homozygotes: 0

African
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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
allele num: 6586
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South Asian
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allele frequency: 0.0e0
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VQSLOD
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ClippingRankSum
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QD
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MQ
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DP
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 2
allele frequency: 2.349624060150376e-4
allele num: 8512
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
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num of homozygotes: 0

Other
type: Population
allele count: 0
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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European (Non-Finnish)
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allele count: 4
allele frequency: 6.066304710485608e-5
allele num: 65938
num of homozygotes: 0

African
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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QD
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.070355419309801e-5
allele num: 65894
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East Asian
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African
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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DP
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1634
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.096817461285209e-5
allele num: 16402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65746
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: 6582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

DP
type: SiteQuality
SIO_000300: 2.536483e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.334e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1787
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528023959415684e-5
allele num: 65444
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 2.486725e6

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

FS
type: SiteQuality
SIO_000300: 4.116e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.138e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 3035
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 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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bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 7.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.471129091577786e-3
allele num: 16314
num of homozygotes: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

FS
type: SiteQuality
SIO_000300: 4.422e0

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.072e1

DP
type: SiteQuality
SIO_000300: 2.525949e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

GenotypeQuality
all individuals: 3055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
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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: 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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66096
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.715356458079135e-5
allele num: 11474
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.83e0

DP
type: SiteQuality
SIO_000300: 2.528036e6

FS
type: SiteQuality
SIO_000300: 2.076e0

VQSLOD
type: SiteQuality
SIO_000300: -1.008e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.772e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

GenotypeQuality
all individuals: 10998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
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variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 1880
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 3092
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 210
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3094
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4211
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.12e-2

FS
type: SiteQuality
SIO_000300: 5.277e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

DP
type: SiteQuality
SIO_000300: 2.545211e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.492e0

QD
type: SiteQuality
SIO_000300: 1.339e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 2953
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11100
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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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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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

DP
type: SiteQuality
SIO_000300: 2.548165e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32060
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.749e1

VQSLOD
type: SiteQuality
SIO_000300: -5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 2.549011e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e0

MQRankSum
type: SiteQuality
SIO_000300: -7.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32067
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1895
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 11124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

DP
type: SiteQuality
SIO_000300: 2.550658e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.021e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

GenotypeQuality
all individuals: 32068
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3123
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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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 frequency: 0.0e0
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Other
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African
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MQ
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FS
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.057285659361784e-3
allele num: 10404
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Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Finnish)
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Other
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MQRankSum
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SIO_000300: 4.02e-1

BaseQRankSum
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 19

Latino
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allele frequency: 4.320027648176948e-4
allele num: 11574
num of homozygotes: 0

African
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allele count: 0
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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European (Non-Finnish)
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allele count: 14
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allele num: 66732
num of homozygotes: 0

South Asian
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East Asian
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Other
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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QD
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MQ
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BaseQRankSum
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MQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

Latino
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European (Finnish)
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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MQ
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ClippingRankSum
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SIO_000300: -1.181e0

ReadPosRankSum
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SIO_000300: 2.53e0

DP
type: SiteQuality
SIO_000300: 2.553114e6

QD
type: SiteQuality
SIO_000300: 1.757e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
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
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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DP
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BaseQRankSum
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MQRankSum
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MQ
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QD
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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: 1.4983967155144e-5
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African
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele num: 10406
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Latino
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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 frequency: 0.0e0
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Other
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VQSLOD
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QD
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FS
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MQ
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DP
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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African
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South Asian
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allele num: 16512
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Latino
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East Asian
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European (Non-Finnish)
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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FS
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MQ
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QD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

European (Finnish)
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Latino
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Other
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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African
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66738
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South Asian
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Latino
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African
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European (Finnish)
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Other
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East Asian
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MQRankSum
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QD
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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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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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.414e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.553697e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1