16-89662919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662919
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662919
    reference: chr 16
allele count: 3
allele frequency: 2.520796571716663e-5
allele num: 119010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1792G>A
  hgvsp: ENSP00000268720.5:p.Val598Met
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.183G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*80G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.150G>A
  hgvsp: ENSP00000434886.1:p.Arg51His
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1567G>A
  hgvsp: ENSP00000317374.8:p.Val523Met
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.324G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val598Met
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

16-89662919-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662919
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662919
    reference: chr 16
allele count: 1
allele frequency: 8.402655239055541e-6
allele num: 119010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*80G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1792G>T
  hgvsp: ENSP00000268720.5:p.Val598Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.150G>T
  hgvsp: ENSP00000434886.1:p.Arg51Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.183G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1567G>T
  hgvsp: ENSP00000317374.8:p.Val523Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.324G>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val598Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

16-89662927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662927
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662927
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 119176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1575C>T
  hgvsp: ENST00000319518.8:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*88C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.158C>T
  hgvsp: ENSP00000434886.1:p.Arg54Ter
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.332C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.191C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1800C>T
  hgvsp: ENST00000268720.5:c.1800C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg54Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

16-89662928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662928
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662928
    reference: chr 16
allele count: 11
allele frequency: 9.225556468792458e-5
allele num: 119234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.192G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1801G>A
  hgvsp: ENSP00000268720.5:p.Glu601Lys
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.159G>A
  hgvsp: ENSP00000434886.1:p.Arg54Gln
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.333G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1576G>A
  hgvsp: ENSP00000317374.8:p.Glu526Lys
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*89G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16805
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu601Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-89662935-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662935
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662935
    reference: chr 16
allele count: 1
allele frequency: 8.385041086701324e-6
allele num: 119260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.340C>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1583C>A
  hgvsp: ENSP00000317374.8:p.Pro528Gln
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*96C>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1808C>A
  hgvsp: ENSP00000268720.5:p.Pro603Gln
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.199C>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.166C>A
  hgvsp: ENST00000526232.1:c.166C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro603Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

16-89662935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662935
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662935
    reference: chr 16
allele count: 8
allele frequency: 6.708032869361059e-5
allele num: 119260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.166C>T
  hgvsp: ENST00000526232.1:c.166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1808C>T
  hgvsp: ENSP00000268720.5:p.Pro603Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1583C>T
  hgvsp: ENSP00000317374.8:p.Pro528Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.340C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*96C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.199C>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21310
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro603Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

16-89662936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662936
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662936
    reference: chr 16
allele count: 33
allele frequency: 2.766970753957607e-4
allele num: 119264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.341G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.200G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*97G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1584G>A
  hgvsp: ENST00000319518.8:c.1584G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1809G>A
  hgvsp: ENST00000268720.5:c.1809G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.167G>A
  hgvsp: ENSP00000434886.1:p.Glu57Lys
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu57Lys
num of homozygotes: 1
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

16-89662936-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662936
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662936
    reference: chr 16
allele count: 2
allele frequency: 1.676951972095519e-5
allele num: 119264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*97G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1809G>C
  hgvsp: ENST00000268720.5:c.1809G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1584G>C
  hgvsp: ENST00000319518.8:c.1584G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.200G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.167G>C
  hgvsp: ENSP00000434886.1:p.Glu57Gln
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.341G>C
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21310
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24980
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu57Gln
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

16-89662943-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662943
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662943
    reference: chr 16
allele count: 1
allele frequency: 8.382791804982731e-6
allele num: 119292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1591G>C
  hgvsp: ENSP00000317374.8:p.Val531Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.174G>C
  hgvsp: ENSP00000434886.1:p.Gly59Ala
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*104G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.207G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.348G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1816G>C
  hgvsp: ENSP00000268720.5:p.Val606Leu
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21286
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val606Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

16-89662945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662945
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662945
    reference: chr 16
allele count: 1
allele frequency: 8.385181706887589e-6
allele num: 119258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.176G>A
  hgvsp: ENSP00000434886.1:p.Gly60Ser
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.350G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1818G>A
  hgvsp: ENST00000268720.5:c.1818G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.209G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*106G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1593G>A
  hgvsp: ENST00000319518.8:c.1593G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly60Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

16-89662948-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662948
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662948
    reference: chr 16
allele count: 2
allele frequency: 1.676980094246281e-5
allele num: 119262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1596G>A
  hgvsp: ENST00000319518.8:c.1596G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.179G>A
  hgvsp: ENSP00000434886.1:p.Gly61Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1821G>A
  hgvsp: ENST00000268720.5:c.1821G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.212G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.353G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly61Arg
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-89662949-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662949
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662949
    reference: chr 16
allele count: 1
allele frequency: 8.386166180269028e-6
allele num: 119244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1597G>C
  hgvsp: ENSP00000317374.8:p.Glu533Gln
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.180G>C
  hgvsp: ENSP00000434886.1:p.Gly61Ala
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1822G>C
  hgvsp: ENSP00000268720.5:p.Glu608Gln
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.354G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*110G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.213G>C
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu608Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

16-89662953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662953
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662953
    reference: chr 16
allele count: 1
allele frequency: 8.393627557957998e-6
allele num: 119138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.358A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.184A>G
  hgvsp: ENST00000526232.1:c.184A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.217A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*114A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1601A>G
  hgvsp: ENSP00000317374.8:p.Tyr534Cys
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1826A>G
  hgvsp: ENSP00000268720.5:p.Tyr609Cys
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr609Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-89662956-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662956
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662956
    reference: chr 16
allele count: 17
allele frequency: 1.437097401389758e-4
allele num: 118294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1604A>C
  hgvsp: ENSP00000317374.8:p.Tyr535Ser
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1829A>C
  hgvsp: ENSP00000268720.5:p.Tyr610Ser
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.220A>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.187A>C
  hgvsp: ENST00000526232.1:c.187A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.361A>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*117A>C
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16550
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 23924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21021
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5010
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Tyr610Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

16-89662956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662956
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662956
    reference: chr 16
allele count: 3
allele frequency: 2.536054237746631e-5
allele num: 118294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.187A>G
  hgvsp: ENST00000526232.1:c.187A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1604A>G
  hgvsp: ENSP00000317374.8:p.Tyr535Cys
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1829A>G
  hgvsp: ENSP00000268720.5:p.Tyr610Cys
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*117A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.361A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.220A>G
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23924
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr610Cys
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

16-89662957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662957
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662957
    reference: chr 16
allele count: 1
allele frequency: 8.392641332080031e-6
allele num: 119152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.362C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1605C>T
  hgvsp: ENST00000319518.8:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*118C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.221C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.188C>T
  hgvsp: ENSP00000434886.1:p.Gln64Ter
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1830C>T
  hgvsp: ENST00000268720.5:c.1830C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln64Ter
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-89662962-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662962
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662962
    reference: chr 16
allele count: 1
allele frequency: 8.397715821296607e-6
allele num: 119080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.193A>C
  hgvsp: ENST00000526232.1:c.193A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*123A>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1835A>C
  hgvsp: ENSP00000268720.5:p.His612Pro
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.226A>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1610A>C
  hgvsp: ENSP00000317374.8:p.His537Pro
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.367A>C
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16899
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21278
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His612Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

16-89662966-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662966
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662966
    reference: chr 16
allele count: 1
allele frequency: 8.399690891375198e-6
allele num: 119052
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1839A>G
  hgvsp: ENST00000268720.5:c.1839A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.197A>G
  hgvsp: ENSP00000434886.1:p.Arg67Gly
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.230A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.371A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1614A>G
  hgvsp: ENST00000319518.8:c.1614A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*127A>G
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg67Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

16-89662972-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662972
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662972
    reference: chr 16
allele count: 1
allele frequency: 8.411136344520145e-6
allele num: 118890
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1845G>T
  hgvsp: ENST00000268720.5:c.1845G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1620G>T
  hgvsp: ENST00000319518.8:c.1620G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.377G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*133G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.203G>T
  hgvsp: ENSP00000434886.1:p.Ala69Ser
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.236G>T
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala69Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

16-89662975-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662975
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662975
    reference: chr 16
allele count: 1
allele frequency: 8.416233230655287e-6
allele num: 118818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1623C>T
  hgvsp: ENST00000319518.8:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.206C>T
  hgvsp: ENSP00000434886.1:p.Pro70Ser
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*136C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.239C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.380C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1848C>T
  hgvsp: ENST00000268720.5:c.1848C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro70Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

16-89662977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662977
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662977
    reference: chr 16
allele count: 7
allele frequency: 5.894439017818047e-5
allele num: 118756
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1850C>T
  hgvsp: ENSP00000268720.5:p.Pro617Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.208C>T
  hgvsp: ENST00000526232.1:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1625C>T
  hgvsp: ENSP00000317374.8:p.Pro542Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.382C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*138C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.241C>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21266
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro617Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

16-89662977-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662977
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662976
    reference: chr 16
allele count: 6
allele frequency: 5.052376300986898e-5
allele num: 118756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.209delG
  hgvsp: ENSP00000434886.1:p.Glu71ArgfsTer17
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1626delG
  hgvsp: ENSP00000317374.8:p.Arg543GlufsTer27
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*139delG
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.383delG
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1851delG
  hgvsp: ENSP00000268720.5:p.Arg618GlufsTer27
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.242delG
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16725
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21266
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg618GlufsTer27
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: CG
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-89662978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662978
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662978
    reference: chr 16
allele count: 2
allele frequency: 1.684295627568551e-5
allele num: 118744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.242G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1626G>A
  hgvsp: ENST00000319518.8:c.1626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.383G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1851G>A
  hgvsp: ENST00000268720.5:c.1851G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.209G>A
  hgvsp: ENSP00000434886.1:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*139G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5073
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu71Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

16-89662979-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662979
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662979
    reference: chr 16
allele count: 5
allele frequency: 4.210455402856373e-5
allele num: 118752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.210A>T
  hgvsp: ENSP00000434886.1:p.Glu71Val
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1852A>T
  hgvsp: ENSP00000268720.5:p.Arg618Ter
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.243A>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1627A>T
  hgvsp: ENSP00000317374.8:p.Arg543Ter
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*140A>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.384A>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg618Ter
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

16-89662980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662980
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662980
    reference: chr 16
allele count: 1
allele frequency: 8.421903687109433e-6
allele num: 118738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*141G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1628G>A
  hgvsp: ENSP00000317374.8:p.Arg543Lys
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.211G>A
  hgvsp: ENST00000526232.1:c.211G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1853G>A
  hgvsp: ENSP00000268720.5:p.Arg618Lys
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.385G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.244G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg618Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

16-89662981-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662981
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662981
    reference: chr 16
allele count: 1
allele frequency: 8.424032078714155e-6
allele num: 118708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.245A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1629A>G
  hgvsp: ENST00000319518.8:c.1629A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.386A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.212A>G
  hgvsp: ENSP00000434886.1:p.Lys72Glu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1854A>G
  hgvsp: ENST00000268720.5:c.1854A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*142A>G
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys72Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

16-89662982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662982
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662982
    reference: chr 16
allele count: 1
allele frequency: 8.424883736604435e-6
allele num: 118696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.213A>G
  hgvsp: ENSP00000434886.1:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.246A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*143A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1630A>G
  hgvsp: ENSP00000317374.8:p.Ser544Gly
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1855A>G
  hgvsp: ENSP00000268720.5:p.Ser619Gly
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.387A>G
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser619Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

16-89662984-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662984
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662984
    reference: chr 16
allele count: 1
allele frequency: 8.441810599537389e-6
allele num: 118458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.215C>G
  hgvsp: ENSP00000434886.1:p.Pro73Ala
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*145C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1857C>G
  hgvsp: ENSP00000268720.5:p.Ser619Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.248C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1632C>G
  hgvsp: ENSP00000317374.8:p.Ser544Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.389C>G
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser619Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

16-89662988-G-GGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662988
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662990
    reference: chr 16
allele count: 2
allele frequency: 1.688048615800135e-5
allele num: 118480
alternate allele: GGC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1637_1638insCG
  hgvsp: ENSP00000317374.8:p.Pro548SerfsTer23
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.394_395insCG
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.220_221insCG
  hgvsp: ENSP00000434886.1:p.Cys75ArgfsTer14
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.253_254insCG
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*150_*151insCG
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1862_1863insCG
  hgvsp: ENSP00000268720.5:p.Pro623SerfsTer23
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16588
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro623SerfsTer23
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

16-89662990-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662990
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662990
    reference: chr 16
allele count: 36663
allele frequency: 3.098054790353383e-1
allele num: 118342
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1863T>C
  hgvsp: ENST00000268720.5:c.1863T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1638T>C
  hgvsp: ENST00000319518.8:c.1638T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.254T>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.221T>C
  hgvsp: ENSP00000434886.1:p.Cys75Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*151T>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.395T>C
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 4.25e1
  variant carriers: 2687
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 2.75e1
  variant carriers: 1237
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 865
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 3.25e1
  variant carriers: 1584
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 9.75e1
  variant carriers: 1139
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 683
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 2.25e1
  variant carriers: 874
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 5.25e1
  variant carriers: 3219
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 499
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.75e1
  variant carriers: 2098
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 4.75e1
  variant carriers: 3019
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 627
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 5.75e1
  variant carriers: 3010
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 7.25e1
  variant carriers: 1448
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 329
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.75e1
  variant carriers: 1200
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 6.25e1
  variant carriers: 2455
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 6.75e1
  variant carriers: 2002
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 6.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 196
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 21367
  bin: 6.25e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.25e1
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 22
hgvs: p.Cys75Arg
num of homozygotes: 7718
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

16-89662990-T-TCCCTGCCGGAGAAGCCTGGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662990
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663011
    reference: chr 16
allele count: 2
allele frequency: 1.690017069172399e-5
allele num: 118342
alternate allele: TCCCTGCCGGAGAAGCCTGGGC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28447
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly621_Val622insProCysArgArgSerLeuGly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-89662997-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662997
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662997
    reference: chr 16
allele count: 1
allele frequency: 8.562670183069888e-6
allele num: 116786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*158G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1870G>T
  hgvsp: ENSP00000268720.5:p.Ala624Ser
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1645G>T
  hgvsp: ENSP00000317374.8:p.Ala549Ser
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.261G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.402G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.228G>T
  hgvsp: ENSP00000434886.1:p.Cys77Phe
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala624Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

16-89662999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89662999
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89662999
    reference: chr 16
allele count: 8
allele frequency: 6.853774716425071e-5
allele num: 116724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1647C>T
  hgvsp: ENST00000319518.8:c.1647C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.404C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.230C>T
  hgvsp: ENSP00000434886.1:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.263C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1872C>T
  hgvsp: ENST00000268720.5:c.1872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28006
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg78Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

16-89663000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663000
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663000
    reference: chr 16
allele count: 3
allele frequency: 2.575903283418052e-5
allele num: 116464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.264G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.231G>A
  hgvsp: ENSP00000434886.1:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*161G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1873G>A
  hgvsp: ENSP00000268720.5:p.Gly625Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.405G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1648G>A
  hgvsp: ENSP00000317374.8:p.Gly550Arg
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly625Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

16-89663000-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663000
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663000
    reference: chr 16
allele count: 2
allele frequency: 1.717268855612035e-5
allele num: 116464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*161G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.264G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1873G>C
  hgvsp: ENSP00000268720.5:p.Gly625Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.231G>C
  hgvsp: ENSP00000434886.1:p.Arg78Pro
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.405G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1648G>C
  hgvsp: ENSP00000317374.8:p.Gly550Arg
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly625Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

16-89663002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663002
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663002
    reference: chr 16
allele count: 1
allele frequency: 8.593427746459508e-6
allele num: 116368
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1875A>G
  hgvsp: ENST00000268720.5:c.1875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1650A>G
  hgvsp: ENST00000319518.8:c.1650A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.233A>G
  hgvsp: ENSP00000434886.1:p.Arg79Gly
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*163A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.407A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.266A>G
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7764
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg79Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

16-89663005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663005
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663005
    reference: chr 16
allele count: 19
allele frequency: 1.643541745960348e-4
allele num: 115604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1653G>A
  hgvsp: ENST00000319518.8:c.1653G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.236G>A
  hgvsp: ENSP00000434886.1:p.Gly80Ser
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.410G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*166G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1878G>A
  hgvsp: ENST00000268720.5:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.269G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27283
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly80Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

16-89663005-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663005
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663005
    reference: chr 16
allele count: 1
allele frequency: 8.650219715580775e-6
allele num: 115604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.236G>T
  hgvsp: ENSP00000434886.1:p.Gly80Cys
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.410G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1878G>T
  hgvsp: ENSP00000268720.5:p.Glu626Asp
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1653G>T
  hgvsp: ENSP00000317374.8:p.Glu551Asp
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*166G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.269G>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu626Asp
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD

16-89663008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663008
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663008
    reference: chr 16
allele count: 1
allele frequency: 8.656209965028912e-6
allele num: 115524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.413C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.272C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.239C>T
  hgvsp: ENSP00000434886.1:p.Gln81Ter
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1656C>T
  hgvsp: ENST00000319518.8:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1881C>T
  hgvsp: ENST00000268720.5:c.1881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*169C>T
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln81Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

16-89663010-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663010
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663009
    reference: chr 16
allele count: 1
allele frequency: 8.68266592574584e-6
allele num: 115172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.244delC
  hgvsp: ENSP00000434886.1:p.Arg83GlyfsTer5
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.418delC
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1886delC
  hgvsp: ENSP00000268720.5:p.Pro629GlnfsTer16
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.277delC
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*174delC
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1661delC
  hgvsp: ENSP00000317374.8:p.Pro554GlnfsTer16
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro629GlnfsTer16
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: GC
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

16-89663011-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663011
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663011
    reference: chr 16
allele count: 2
allele frequency: 1.738042269187987e-5
allele num: 115072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.275C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1884C>G
  hgvsp: ENSP00000268720.5:p.Ser628Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*172C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.416C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1659C>G
  hgvsp: ENSP00000317374.8:p.Ser553Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.242C>G
  hgvsp: ENSP00000434886.1:p.Pro82Ala
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser628Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

16-89663013-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663013
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663013
    reference: chr 16
allele count: 10
allele frequency: 8.714293183679872e-5
allele num: 114754
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1886C>G
  hgvsp: ENSP00000268720.5:p.Pro629Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.244C>G
  hgvsp: ENST00000526232.1:c.244C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*174C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1661C>G
  hgvsp: ENSP00000317374.8:p.Pro554Arg
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.277C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.418C>G
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26667
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro629Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

16-89663013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663013
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663013
    reference: chr 16
allele count: 4
allele frequency: 3.485717273471949e-5
allele num: 114754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.244C>T
  hgvsp: ENST00000526232.1:c.244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1661C>T
  hgvsp: ENSP00000317374.8:p.Pro554Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.277C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*174C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.418C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1886C>T
  hgvsp: ENSP00000268720.5:p.Pro629Leu
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26667
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro629Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

16-89663023-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663023
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663023
    reference: chr 16
allele count: 1
allele frequency: 8.805452336086505e-6
allele num: 113566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1671A>T
  hgvsp: ENST00000319518.8:c.1671A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.287A>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.254A>T
  hgvsp: ENSP00000434886.1:p.Thr86Ser
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1896A>T
  hgvsp: ENST00000268720.5:c.1896A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.428A>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*184A>T
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr86Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

16-89663025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663025
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663025
    reference: chr 16
allele count: 1718
allele frequency: 1.519117178933965e-2
allele num: 113092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*186C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.256C>T
  hgvsp: ENST00000526232.1:c.256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1898C>T
  hgvsp: ENSP00000268720.5:p.Pro633Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.289C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1673C>T
  hgvsp: ENSP00000317374.8:p.Pro558Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.430C>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 2.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 25689
  bin: 2.75e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.25e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 288
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.75e1
  variant carriers: 1549
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6828
  bin: 6.75e1
  variant carriers: 7
hgvs: p.Pro633Leu
num of homozygotes: 104
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

16-89663026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663026
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663026
    reference: chr 16
allele count: 301
allele frequency: 2.669812492238917e-3
allele num: 112742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1674G>A
  hgvsp: ENST00000319518.8:c.1674G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*187G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1899G>A
  hgvsp: ENST00000268720.5:c.1899G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.257G>A
  hgvsp: ENSP00000434886.1:p.Val87Met
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.290G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.431G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 26189
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 3.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6972
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val87Met
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

16-89663026-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663026
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663026
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 112742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*187G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.290G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.1674G>C
  hgvsp: ENST00000319518.8:c.1674G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.257G>C
  hgvsp: ENSP00000434886.1:p.Val87Leu
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.431G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.1899G>C
  hgvsp: ENST00000268720.5:c.1899G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val87Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

16-89663031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663031
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663031
    reference: chr 16
allele count: 1
allele frequency: 8.947104716913606e-6
allele num: 111768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.262G>A
  hgvsp: ENST00000526232.1:c.262G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*2G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.295G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*192G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.436G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*2G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6732
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys88Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

16-89663031-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663031
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663031
    reference: chr 16
allele count: 103
allele frequency: 9.215517858421015e-4
allele num: 111768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*2G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.436G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*2G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.262G>T
  hgvsp: ENSP00000434886.1:p.Lys88Asn
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*192G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.295G>T
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 25531
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 34693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 9.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 7053
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Lys88Asn
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-89663032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663032
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663032
    reference: chr 16
allele count: 8
allele frequency: 7.156403191755823e-5
allele num: 111788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.437A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*3A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*3A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.296A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.263A>G
  hgvsp: ENSP00000434886.1:p.Met89Val
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*193A>G
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met89Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

16-89663041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663041
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663041
    reference: chr 16
allele count: 1
allele frequency: 9.141937725120216e-6
allele num: 109386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*12G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.272G>A
  hgvsp: ENSP00000434886.1:p.Ala92Thr
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*12G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.446G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.305G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*202G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8868
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala92Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

16-89663042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663042
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663042
    reference: chr 16
allele count: 12
allele frequency: 1.099464927068827e-4
allele num: 109144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.447C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.273C>T
  hgvsp: ENSP00000434886.1:p.Ala92Val
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*13C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.306C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*203C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*13C>T
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23210
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10252
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala92Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

16-89663043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663043
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663043
    reference: chr 16
allele count: 1
allele frequency: 9.216419973825367e-6
allele num: 108502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.274G>A
  hgvsp: ENST00000526232.1:c.274G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.307G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*14G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*14G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.448G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*204G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala92Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-89663044-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663044
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663044
    reference: chr 16
allele count: 1
allele frequency: 9.208781494032709e-6
allele num: 108592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.449T>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*205T>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*15T>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*15T>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.275T>A
  hgvsp: ENSP00000434886.1:p.Ter93LysextTer21
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.308T>A
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9464
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ter93LysextTer21
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

16-89663046-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663046
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663046
    reference: chr 16
allele count: 1
allele frequency: 9.257887720337728e-6
allele num: 108016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*17G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*17G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.310G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*207G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.277G>C
  hgvsp: ENSP00000434886.1:p.Ter93TyrextTer21
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.451G>C
  variant of: http://identifiers.org/hgnc/2320
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ter93TyrextTer21
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

16-89663047-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663047
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663047
    reference: chr 16
allele count: 1
allele frequency: 9.305961398872118e-6
allele num: 107458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.452G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.311G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*208G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*18G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*18G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*1G>C
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10497
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

16-89663050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663050
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663050
    reference: chr 16
allele count: 2
allele frequency: 1.874343979607137e-5
allele num: 106704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*4G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*21G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*21G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*211G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.455G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.314G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27969
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

16-89663050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663050
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663050
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 106704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.314G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*21G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*4G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*21G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.455G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*211G>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 20049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

16-89663052-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663052
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663052
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 105940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*213G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*23G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*23G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*6G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.316G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.457G>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

16-89663053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663053
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663053
    reference: chr 16
allele count: 1
allele frequency: 9.446617166392714e-6
allele num: 105858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.458G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*24G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*214G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*24G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.317G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18875
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26793
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

16-89663054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663054
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663054
    reference: chr 16
allele count: 2
allele frequency: 1.895626788997782e-5
allele num: 105506
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*25G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*8G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*25G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.459G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.318G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18477
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

16-89663059-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663059
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663059
    reference: chr 16
allele count: 1143
allele frequency: 1.099545944281976e-2
allele num: 103952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.323G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*30G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*13G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*220G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*30G>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.464G>C
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 1.75e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 2.25e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16186
  bin: 2.75e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 7.5e0
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.25e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 11649
  bin: 1.25e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 9.75e1
  variant carriers: 1125
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12515
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 11
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

16-89663061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663061
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663061
    reference: chr 16
allele count: 1
allele frequency: 9.692176475149259e-6
allele num: 103176
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*32G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.325G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*32G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*222G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.466G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12506
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

16-89663069-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663069
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663069
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 100406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*40T>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.333T>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*23T>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.474T>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*230T>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*40T>G
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

16-89663071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663071
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663071
    reference: chr 16
allele count: 4
allele frequency: 4.036408403802297e-5
allele num: 99098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.335C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.476C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*232C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*42C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*42C>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15748
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4553
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

16-89663072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663072
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663072
    reference: chr 16
allele count: 25447
allele frequency: 2.611287839917907e-1
allele num: 97450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*43G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.477G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*233G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*43G>A
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.336G>A
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 1.75e1
  variant carriers: 5654
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 15901
  bin: 1.25e1
  variant carriers: 3722
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.5e0
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 2.25e1
  variant carriers: 5440
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 920
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 2.75e1
  variant carriers: 3496
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 7.5e0
  variant carriers: 1748
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 3.25e1
  variant carriers: 1877
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 335
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 7.5e0
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 7970
  bin: 6.25e1
  variant carriers: 487
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 4.25e1
  variant carriers: 211
genotype quality: GenotypeQuality
  all individuals: 11652
  bin: 2.25e1
  variant carriers: 257
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 2.5e0
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 3.25e1
  variant carriers: 277
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 418
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 5.25e1
  variant carriers: 517
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.75e1
  variant carriers: 423
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 1.75e1
  variant carriers: 236
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 180
num of homozygotes: 3496
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

16-89663072-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663072
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663072
    reference: chr 16
allele count: 1
allele frequency: 1.026167265264238e-5
allele num: 97450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*43G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*26G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*233G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.477G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.336G>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*43G>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15901
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18807
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11652
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-89663073-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663073
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663073
    reference: chr 16
allele count: 41
allele frequency: 4.369511467303265e-4
allele num: 93832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.478T>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*44T>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*44T>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*234T>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.337T>C
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*27T>C
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9439
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21745
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 5354
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

16-89663079-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663079
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663079
    reference: chr 16
allele count: 1
allele frequency: 1.103630945811721e-5
allele num: 90610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*240C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.484C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*50C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.343C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*50C>G
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12356
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5773
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4435
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-89663085-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663085
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663085
    reference: chr 16
allele count: 1
allele frequency: 1.177800810326958e-5
allele num: 84904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.349C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.490C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*39C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*56C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*56C>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*246C>G
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13642
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5975
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3711
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5719
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

16-89663088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663088
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663088
    reference: chr 16
allele count: 1
allele frequency: 1.189598153743665e-5
allele num: 84062
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*59C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.493C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.352C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*249C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*59C>T
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5952
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

16-89663092-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89663092
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89663092
    reference: chr 16
allele count: 1
allele frequency: 1.238850346878097e-5
allele num: 80720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000566398
  gene symbol: CPNE7
  hgvsc: ENST00000566398.1:n.497A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000268720
  ensembl transcript: ENST00000268720
  gene symbol: CPNE7
  hgvsc: ENST00000268720.5:c.*63A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000455086
  ensembl transcript: ENST00000568977
  gene symbol: CPNE7
  hgvsc: ENST00000568977.1:c.*253A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000317374
  ensembl transcript: ENST00000319518
  gene symbol: CPNE7
  hgvsc: ENST00000319518.8:c.*63A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178773
  ensembl protein: ENSP00000434886
  ensembl transcript: ENST00000526232
  gene symbol: CPNE7
  hgvsc: ENST00000526232.1:c.*46A>G
  variant of: http://identifiers.org/hgnc/2320
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178773
  ensembl transcript: ENST00000564421
  gene symbol: CPNE7
  hgvsc: ENST00000564421.1:n.356A>G
  variant of: http://identifiers.org/hgnc/2320
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19352
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

16-89696768-A-AGCACAGAGGCACCAGGGCAGCAGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 89696768
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 89696792
    reference: chr 16
allele count: 1
allele frequency: 8.359386755387625e-6
allele num: 119626
alternate allele: AGCACAGAGGCACCAGGGCAGCAGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000015413
  ensembl transcript: ENST00000565249
  gene symbol: DPEP1
  variant of: http://identifiers.org/hgnc/3002
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000015413
  ensembl protein: ENSP00000397313
  ensembl transcript: ENST00000421184
  gene symbol: DPEP1
  variant of: http://identifiers.org/hgnc/3002
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000015413
  ensembl protein: ENSP00000455142
  ensembl transcript: ENST00000568281
  gene symbol: DPEP1
  variant of: http://identifiers.org/hgnc/3002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000015413
  ensembl transcript: ENST00000561484
  gene symbol: DPEP1
  variant of: http://identifiers.org/hgnc/3002
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000015413
  ensembl protein: ENSP00000261615
  ensembl transcript: ENST00000261615
  gene symbol: DPEP1
  variant of: http://identifiers.org/hgnc/3002
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000015413
  ensembl protein: ENSP00000455916
  ensembl transcript: ENST00000570029
  gene symbol: DPEP1
  variant of: http://identifiers.org/hgnc/3002
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000015413
  ensembl protein: ENSP00000376807
  ensembl transcript: ENST00000393092
  gene symbol: DPEP1
  variant of: http://identifiers.org/hgnc/3002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000015413
  ensembl transcript: ENST00000564281
  gene symbol: DPEP1
  variant of: http://identifiers.org/hgnc/3002
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21320
bin: 9.75e1
variant carriers: 3

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.605747973470892e-5
allele num: 65136
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

DP
type: SiteQuality
SIO_000300: 2.398789e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.423e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1215
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24978
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
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: 65136
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.218132073125233e-5
allele num: 16082
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.398789e6

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.423e0

QD
type: SiteQuality
SIO_000300: 1.179e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 2.453e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24981
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 7.25e1
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GenotypeQuality
all individuals: 1214
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.652e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 2.400098e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.95e0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25162
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.817396426467701e-5
allele num: 10186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.534024667116647e-4
allele num: 65188
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.316e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.59e0

DP
type: SiteQuality
SIO_000300: 2.401104e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeQuality
all individuals: 25051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65184
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.25e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

DP
type: SiteQuality
SIO_000300: 2.399681e6

GenotypeQuality
all individuals: 830
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
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GenotypeQuality
all individuals: 790
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25051
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.227295041728031e-4
allele num: 65184
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.25e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

DP
type: SiteQuality
SIO_000300: 2.399681e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
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GenotypeQuality
all individuals: 5265
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variant carriers: 0

GenotypeQuality
all individuals: 24980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 21310
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.830908375933936e-5
allele num: 10172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.756206081806744e-4
allele num: 65178
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.039e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

QD
type: SiteQuality
SIO_000300: 1.279e1

DP
type: SiteQuality
SIO_000300: 2.399023e6

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 61
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1619
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variant carriers: 0

GenotypeQuality
all individuals: 790
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variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.068520052778545e-5
allele num: 65178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.039e0

DP
type: SiteQuality
SIO_000300: 2.399023e6

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

QD
type: SiteQuality
SIO_000300: 1.279e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-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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variant carriers: 0

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: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65168
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 2.394938e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

FS
type: SiteQuality
SIO_000300: 2.586e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535202186127913e-5
allele num: 65138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 3.857e0

QD
type: SiteQuality
SIO_000300: 1.206e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.393812e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 909
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.070970119460738e-5
allele num: 65126
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

DP
type: SiteQuality
SIO_000300: 2.392469e6

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
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GenotypeQuality
all individuals: 24607
bin: 6.25e1
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GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21282
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.83477576711251e-5
allele num: 10168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 1.102e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 2.391021e6

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: -2.162e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 3.963e0

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 2.201e1

DP
type: SiteQuality
SIO_000300: 2.388639e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

GenotypeQuality
all individuals: 294
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 372
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 779
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 292
bin: 4.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.990430622009569e-4
allele num: 10032
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.410288582183187e-4
allele num: 6376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.23881197931184e-4
allele num: 64578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

DP
type: SiteQuality
SIO_000300: 2.387433e6

FS
type: SiteQuality
SIO_000300: 9.2188e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.592e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -3.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21021
bin: 9.75e1
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GenotypeQuality
all individuals: 779
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variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64578
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.968102073365231e-5
allele num: 10032
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.221299462628236e-4
allele num: 16376
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 9.2188e1

QD
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.592e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

DP
type: SiteQuality
SIO_000300: 2.387433e6

VQSLOD
type: SiteQuality
SIO_000300: -3.903e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 24829
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1860
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variant carriers: 0

GenotypeQuality
all individuals: 1612
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variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21279
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537137235612395e-5
allele num: 65056
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.866e0

FS
type: SiteQuality
SIO_000300: 9.266999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.228e-1

DP
type: SiteQuality
SIO_000300: 2.391747e6

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
all individuals: 777
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
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variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
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variant carriers: 0

GenotypeQuality
all individuals: 5210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65008
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.29e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

DP
type: SiteQuality
SIO_000300: 2.390806e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

GenotypeQuality
all individuals: 5191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 1853
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variant carriers: 0

GenotypeQuality
all individuals: 21277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.848335631278314e-5
allele num: 10154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 2.389826e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.01e-1

FS
type: SiteQuality
SIO_000300: 1.153e0

QD
type: SiteQuality
SIO_000300: 1.56e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.51e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 1830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
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variant carriers: 0

GenotypeQuality
all individuals: 5135
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variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540784567501772e-5
allele num: 64902
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.856e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.28e0

QD
type: SiteQuality
SIO_000300: 2.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 2.385812e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 1084
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.119202056051891e-5
allele num: 16342
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.527e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

DP
type: SiteQuality
SIO_000300: 2.383647e6

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 5090
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variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 1577
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GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 768
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GenotypeQuality
all individuals: 24321
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.608242044861763e-4
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.170554115759595e-5
allele num: 64824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.61e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.382466e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.255831173639393e-5
allele num: 64824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

QD
type: SiteQuality
SIO_000300: 1.61e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.382466e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21255
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 260
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24188
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.08546744831842e-5
allele num: 64820
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 2.380296e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.103e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.004e0

FS
type: SiteQuality
SIO_000300: 3.364e0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21254
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 24292
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.940711462450593e-4
allele num: 10120
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64830
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 2.380273e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

QD
type: SiteQuality
SIO_000300: 2.672e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
all individuals: 1148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542590935735662e-5
allele num: 64826
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 3.478e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.902e0

MQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

DP
type: SiteQuality
SIO_000300: 2.379032e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21253
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.124448799608035e-5
allele num: 16328
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.453e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 2.162e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 2.378427e6

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

GenotypeQuality
all individuals: 1369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.125949522175937e-5
allele num: 16324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64796
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.377815e6

VQSLOD
type: SiteQuality
SIO_000300: -8.717e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

QD
type: SiteQuality
SIO_000300: 2.125e1

GenotypeQuality
all individuals: 23139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4906
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545833977430824e-5
allele num: 64690
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

FS
type: SiteQuality
SIO_000300: 1.411e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 2.373756e6

QD
type: SiteQuality
SIO_000300: 1.57e1

GenotypeQuality
all individuals: 763
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21247
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 293
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 9.25e1
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: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64688
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.230314960629921e-4
allele num: 16256
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.373386e6

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

FS
type: SiteQuality
SIO_000300: 3.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 201
bin: 3.75e1
variant carriers: 53

GenotypeQuality
all individuals: 235
bin: 3.25e1
variant carriers: 45

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 54

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 70

GenotypeQuality
all individuals: 28447
bin: 9.75e1
variant carriers: 27683

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 155

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 78

GenotypeQuality
all individuals: 1063
bin: 2.25e1
variant carriers: 32

Latino
type: Population
allele count: 5890
allele frequency: 5.136926565497995e-1
allele num: 11466
num of homozygotes: 1536

East Asian
type: Population
allele count: 6947
allele frequency: 8.127047262517548e-1
allele num: 8548
num of homozygotes: 2808

Other
type: Population
allele count: 230
allele frequency: 2.649769585253456e-1
allele num: 868
num of homozygotes: 33

African
type: Population
allele count: 5120
allele frequency: 5.068303306275985e-1
allele num: 10102
num of homozygotes: 1323

European (Finnish)
type: Population
allele count: 1617
allele frequency: 2.5e-1
allele num: 6468
num of homozygotes: 184

European (Non-Finnish)
type: Population
allele count: 12288
allele frequency: 1.901107741815706e-1
allele num: 64636
num of homozygotes: 1163

South Asian
type: Population
allele count: 4571
allele frequency: 2.812230835486649e-1
allele num: 16254
num of homozygotes: 671

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.651e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.937e0

DP
type: SiteQuality
SIO_000300: 2.411939e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.836e1

GenotypeQuality
all individuals: 312
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.230466346745417e-4
allele num: 16254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64636
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.651e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

QD
type: SiteQuality
SIO_000300: 1.836e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.937e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

DP
type: SiteQuality
SIO_000300: 2.411939e6

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15656
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56045190687223e-5
allele num: 64084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.926e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.282e0

QD
type: SiteQuality
SIO_000300: 1.424e1

DP
type: SiteQuality
SIO_000300: 1.644398e6

VQSLOD
type: SiteQuality
SIO_000300: -3.168e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 5.701e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.837e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

GenotypeQuality
all individuals: 7794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37803
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 9.75e1
variant carriers: 8

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.560163850486431e-4
allele num: 15624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.121683211587688e-5
allele num: 64068
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

FS
type: SiteQuality
SIO_000300: 3.753e0

QD
type: SiteQuality
SIO_000300: 1.457e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

DP
type: SiteQuality
SIO_000300: 1.64352e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

GenotypeQuality
all individuals: 1330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7739
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15514
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563672754565924e-5
allele num: 63952
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.008064516129032e-4
allele num: 9920
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

FS
type: SiteQuality
SIO_000300: 3.754e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.637e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

DP
type: SiteQuality
SIO_000300: 1.638168e6

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.28915817970865e-4
allele num: 15514
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.637e0

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 3.754e0

QD
type: SiteQuality
SIO_000300: 1.263e1

DP
type: SiteQuality
SIO_000300: 1.638168e6

GenotypeQuality
all individuals: 541
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2490
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2052
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.464124111182935e-5
allele num: 15470
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.634296e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.016e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 652
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 36394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 1.926977687626775e-3
allele num: 9860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63694
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.618669e6

QD
type: SiteQuality
SIO_000300: 1.41e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7475
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.01419878296146e-4
allele num: 9860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63694
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

DP
type: SiteQuality
SIO_000300: 1.618669e6

FS
type: SiteQuality
SIO_000300: 6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.41e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37075
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1969
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.013787510137875e-4
allele num: 9864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.19e-1

FS
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.906e0

DP
type: SiteQuality
SIO_000300: 1.616499e6

VQSLOD
type: SiteQuality
SIO_000300: -2.09e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.683e1

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 647
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
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variant carriers: 0

GenotypeQuality
all individuals: 3992
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36394
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14916
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.01667344448963e-4
allele num: 9836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.297e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.554e0

DP
type: SiteQuality
SIO_000300: 1.608284e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 2.49e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
all individuals: 440
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4027
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36655
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57425773747678e-5
allele num: 63522
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.802816901408451e-5
allele num: 11360
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.081e1

DP
type: SiteQuality
SIO_000300: 1.60749e6

VQSLOD
type: SiteQuality
SIO_000300: -3.976e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.932e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

GenotypeQuality
all individuals: 1936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7306
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63396
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.183712121212121e-3
allele num: 8448
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 2.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.821e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

DP
type: SiteQuality
SIO_000300: 1.600473e6

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.309546343617894e-5
allele num: 63396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.821e0

DP
type: SiteQuality
SIO_000300: 1.600473e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

QD
type: SiteQuality
SIO_000300: 1.142e1

FS
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 810
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187366421277606e-4
allele num: 8422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62940
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.479e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.162e1

QD
type: SiteQuality
SIO_000300: 1.782e1

DP
type: SiteQuality
SIO_000300: 1.574001e6

GenotypeQuality
all individuals: 35109
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 285
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 504
bin: 9.25e1
variant carriers: 13

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 843
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 7.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 143
allele frequency: 2.278376139188069e-3
allele num: 62764
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.659102995922709e-4
allele num: 11282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 149
allele frequency: 2.449852022361065e-2
allele num: 6082
num of homozygotes: 3

Other
type: Population
allele count: 10
allele frequency: 1.219512195121951e-2
allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.228876127973749e-4
allele num: 9752
num of homozygotes: 0

South Asian
type: Population
allele count: 37
allele frequency: 2.641347801256425e-3
allele num: 14008
num of homozygotes: 1

East Asian
type: Population
allele count: 1367
allele frequency: 1.630486641221374e-1
allele num: 8384
num of homozygotes: 100

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.79e-2

FS
type: SiteQuality
SIO_000300: 7.21e-1

DP
type: SiteQuality
SIO_000300: 1.569143e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.43e1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

GenotypeQuality
all individuals: 1050
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6032
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 9.75e1
variant carriers: 300

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 268
allele frequency: 4.276641240864265e-3
allele num: 62666
num of homozygotes: 1

African
type: Population
allele count: 8
allele frequency: 8.221993833504625e-4
allele num: 9730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.480979159775058e-3
allele num: 6046
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.106057914372002e-4
allele num: 11258
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.402113860196973e-4
allele num: 8326
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.798e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.541842e6

QD
type: SiteQuality
SIO_000300: 1.307e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

GenotypeQuality
all individuals: 451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

DP
type: SiteQuality
SIO_000300: 1.541842e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.798e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34693
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1030
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7053
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.034554107179805e-4
allele num: 9666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13526
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.510871e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.245e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

QD
type: SiteQuality
SIO_000300: 1.192e1

GenotypeQuality
all individuals: 424
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.034554107179805e-4
allele num: 9666
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.785076758300607e-4
allele num: 11204
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 8.132485583321012e-4
allele num: 13526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.669449081803005e-4
allele num: 5990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 88
allele frequency: 1.412746829346605e-3
allele num: 62290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

QD
type: SiteQuality
SIO_000300: 1.192e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 1.510871e6

FS
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.245e0

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.390983000739098e-5
allele num: 13530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.123487304593458e-4
allele num: 62306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.325e1

DP
type: SiteQuality
SIO_000300: 1.508756e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

FS
type: SiteQuality
SIO_000300: 7.043e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
all individuals: 1701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.052631578947368e-4
allele num: 9500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.078e0

DP
type: SiteQuality
SIO_000300: 1.443114e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 5.254e0

QD
type: SiteQuality
SIO_000300: 1.178e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
all individuals: 1522
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1566
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 31889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5906
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.338551859099804e-4
allele num: 8176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.906450346722491e-5
allele num: 61144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.915149596327371e-5
allele num: 12634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.43878954607978e-4
allele num: 5816
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.062e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 1.441791e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeQuality
all individuals: 5739
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.6433313613357e-5
allele num: 60852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.144e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

DP
type: SiteQuality
SIO_000300: 1.424887e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e0

QD
type: SiteQuality
SIO_000300: 6.61e0

GenotypeQuality
all individuals: 1207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31543
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.225790634959549e-4
allele num: 8158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.422405e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1191
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.101101749837978e-5
allele num: 12344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.797e0

DP
type: SiteQuality
SIO_000300: 1.402757e6

VQSLOD
type: SiteQuality
SIO_000300: -1.557e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

QD
type: SiteQuality
SIO_000300: 2.005e1

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: 8.25e1
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
all individuals: 2008
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65953068472236e-5
allele num: 60258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 3.079e0

MQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.109e0

VQSLOD
type: SiteQuality
SIO_000300: -5.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

DP
type: SiteQuality
SIO_000300: 1.382748e6

QD
type: SiteQuality
SIO_000300: 1.215e1

GenotypeQuality
all individuals: 1481
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 310
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variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.336781340718742e-5
allele num: 59938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 2.419e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.248e0

QD
type: SiteQuality
SIO_000300: 1.217e1

DP
type: SiteQuality
SIO_000300: 1.360843e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12002
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.248e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 2.419e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

DP
type: SiteQuality
SIO_000300: 1.360843e6

GenotypeQuality
all individuals: 1536
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 4800
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variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59556
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.454e0

VQSLOD
type: SiteQuality
SIO_000300: -2.055e0

DP
type: SiteQuality
SIO_000300: 1.332904e6

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 862
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 327
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GenotypeQuality
all individuals: 1402
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.533879501621438e-5
allele num: 11718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.898e0

DP
type: SiteQuality
SIO_000300: 1.33117e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 3.404e1

GenotypeQuality
all individuals: 1673
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1358
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 396
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variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
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variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.162629757785467e-4
allele num: 9248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10940
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.59e0

FS
type: SiteQuality
SIO_000300: 2.804e0

VQSLOD
type: SiteQuality
SIO_000300: -6.513e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.322041e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.004e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2705
bin: 3.75e1
variant carriers: 4

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 8

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 383
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variant carriers: 5

GenotypeQuality
all individuals: 727
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variant carriers: 6

GenotypeQuality
all individuals: 415
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variant carriers: 5

GenotypeQuality
all individuals: 1961
bin: 7.5e0
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.58636615555145e-3
allele num: 10826
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 2.954048140043764e-3
allele num: 9140
num of homozygotes: 0

South Asian
type: Population
allele count: 69
allele frequency: 6.159614354579539e-3
allele num: 11202
num of homozygotes: 1

Other
type: Population
allele count: 8
allele frequency: 1.08991825613079e-2
allele num: 734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 96
allele frequency: 1.75374497625137e-2
allele num: 5474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 915
allele frequency: 1.560474793642131e-2
allele num: 58636
num of homozygotes: 10

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 1.267235e6

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.451e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 280
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GenotypeQuality
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GenotypeQuality
all individuals: 1209
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GenotypeQuality
all individuals: 21217
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GenotypeQuality
all individuals: 4255
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GenotypeQuality
all individuals: 269
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GenotypeQuality
all individuals: 3091
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10808
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.266784899923993e-4
allele num: 7894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.236602e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 2.532e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.365e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
all individuals: 3012
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 2.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.307e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.134295e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

VQSLOD
type: SiteQuality
SIO_000300: -3.664e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 1215
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13607
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9593
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.552902721523484e-5
allele num: 56292
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.131221719457014e-4
allele num: 8840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.30582397492818e-4
allele num: 7658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 1.11269e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 857
bin: 1.25e1
variant carriers: 145

GenotypeQuality
all individuals: 2085
bin: 3.75e1
variant carriers: 277

GenotypeQuality
all individuals: 18807
bin: 9.75e1
variant carriers: 18305

GenotypeQuality
all individuals: 497
bin: 7.25e1
variant carriers: 301

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 473

GenotypeQuality
all individuals: 841
bin: 4.75e1
variant carriers: 427

GenotypeQuality
all individuals: 602
bin: 5.75e1
variant carriers: 361

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 293

East Asian
type: Population
allele count: 2834
allele frequency: 3.797909407665505e-1
allele num: 7462
num of homozygotes: 492

Latino
type: Population
allele count: 5120
allele frequency: 5.047318611987381e-1
allele num: 10144
num of homozygotes: 1212

African
type: Population
allele count: 2333
allele frequency: 2.657780815675552e-1
allele num: 8778
num of homozygotes: 307

South Asian
type: Population
allele count: 2996
allele frequency: 3.028097837072973e-1
allele num: 9894
num of homozygotes: 432

European (Non-Finnish)
type: Population
allele count: 10800
allele frequency: 1.947630383033975e-1
allele num: 55452
num of homozygotes: 922

Other
type: Population
allele count: 166
allele frequency: 2.448377581120944e-1
allele num: 678
num of homozygotes: 23

European (Finnish)
type: Population
allele count: 1198
allele frequency: 2.376041253470845e-1
allele num: 5042
num of homozygotes: 108

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

QD
type: SiteQuality
SIO_000300: 1.66e1

DP
type: SiteQuality
SIO_000300: 1.103897e6

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.01e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.78e0

GenotypeQuality
all individuals: 2085
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7970
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.858044164037855e-5
allele num: 10144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.66e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.01e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

DP
type: SiteQuality
SIO_000300: 1.103897e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

GenotypeQuality
all individuals: 20169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3594
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6942
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 889
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 34
allele frequency: 7.013201320132013e-3
allele num: 4848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.289656951250967e-4
allele num: 54278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 1.47e1

FS
type: SiteQuality
SIO_000300: 2.136e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 9.59796e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

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

GenotypeQuality
all individuals: 1456
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1072
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.098901098901099e-4
allele num: 9100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

DP
type: SiteQuality
SIO_000300: 8.9304e5

GenotypeQuality
all individuals: 2778
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8502
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.27420998980632e-4
allele num: 7848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

DP
type: SiteQuality
SIO_000300: 8.45473e5

QD
type: SiteQuality
SIO_000300: 1.088e1

FS
type: SiteQuality
SIO_000300: 6.101e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 852
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5017
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8475
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2928
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.029962242702286e-5
allele num: 49262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 2.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

DP
type: SiteQuality
SIO_000300: 8.39404e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.286e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

GenotypeQuality
all individuals: 5958
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.69606512890095e-4
allele num: 5896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7436
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.707e1

QD
type: SiteQuality
SIO_000300: 5.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 8.32624e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.888e0