2-241531516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531516
    reference: chr 2
allele count: 1
allele frequency: 1.927376455169224e-5
allele num: 51884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.626C>T
  hgvsp: ENSP00000270361.11:p.Pro209Leu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.637C>T
  hgvsp: ENSP00000349556.4:p.His213Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.637C>T
  hgvsp: ENSP00000400144.1:p.His213Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5047C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.637C>T
  hgvsp: ENSP00000375843.3:p.His213Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2625C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2216C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.637C>T
  hgvsp: ENSP00000375844.2:p.His213Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.169C>T
  hgvsp: ENSP00000407090.1:p.His57Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.637C>T
  hgvsp: ENSP00000375842.2:p.His213Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.637C>T
  hgvsp: ENSP00000270362.6:p.His213Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.637C>T
  hgvsp: ENSP00000384422.3:p.His213Tyr
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12404
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His213Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

2-241531518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531518
    reference: chr 2
allele count: 3
allele frequency: 6.0e-5
allele num: 50000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.639C>T
  hgvsp: ENST00000357048.4:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.639C>T
  hgvsp: ENST00000391982.2:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.639C>T
  hgvsp: ENST00000391983.3:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5049C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.628C>T
  hgvsp: ENSP00000270361.11:p.Pro210Ser
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.171C>T
  hgvsp: ENST00000432084.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.639C>T
  hgvsp: ENST00000391984.2:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.639C>T
  hgvsp: ENST00000416591.1:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2627C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.639C>T
  hgvsp: ENST00000354082.4:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2218C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.639C>T
  hgvsp: ENST00000404753.3:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22295
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11974
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro210Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

2-241531520-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531520
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531520
    reference: chr 2
allele count: 1
allele frequency: 2.042400228748826e-5
allele num: 48962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5051T>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.641T>G
  hgvsp: ENSP00000400144.1:p.Leu214Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.641T>G
  hgvsp: ENSP00000384422.3:p.Leu214Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.630T>G
  hgvsp: ENST00000270361.11:c.630T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.641T>G
  hgvsp: ENSP00000375843.3:p.Leu214Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.641T>G
  hgvsp: ENSP00000375842.2:p.Leu214Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.641T>G
  hgvsp: ENSP00000349556.4:p.Leu214Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.641T>G
  hgvsp: ENSP00000270362.6:p.Leu214Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.641T>G
  hgvsp: ENSP00000375844.2:p.Leu214Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.173T>G
  hgvsp: ENSP00000407090.1:p.Leu58Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2629T>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2220T>G
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu214Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum

2-241531521-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531521
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531521
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 48412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.642G>T
  hgvsp: ENST00000391983.3:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.642G>T
  hgvsp: ENST00000357048.4:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2221G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2630G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.642G>T
  hgvsp: ENST00000416591.1:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.642G>T
  hgvsp: ENST00000391982.2:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.631G>T
  hgvsp: ENSP00000270361.11:p.Glu211Ter
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.642G>T
  hgvsp: ENST00000404753.3:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5052G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.642G>T
  hgvsp: ENST00000391984.2:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.642G>T
  hgvsp: ENST00000354082.4:c.642G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.174G>T
  hgvsp: ENST00000432084.1:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22377
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu211Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-241531529-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531529
    reference: chr 2
allele count: 1
allele frequency: 2.252150804017837e-5
allele num: 44402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.650A>C
  hgvsp: ENSP00000375844.2:p.Gln217Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.182A>C
  hgvsp: ENSP00000407090.1:p.Gln61Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2229A>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.650A>C
  hgvsp: ENSP00000349556.4:p.Gln217Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.650A>C
  hgvsp: ENSP00000375843.3:p.Gln217Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2638A>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5060A>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.650A>C
  hgvsp: ENSP00000375842.2:p.Gln217Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.650A>C
  hgvsp: ENSP00000384422.3:p.Gln217Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.639A>C
  hgvsp: ENST00000270361.11:c.639A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.650A>C
  hgvsp: ENSP00000270362.6:p.Gln217Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.650A>C
  hgvsp: ENSP00000400144.1:p.Gln217Pro
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln217Pro
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-241531531-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531531
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531531
    reference: chr 2
allele count: 10
allele frequency: 2.318571759795966e-4
allele num: 43130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.641T>C
  hgvsp: ENSP00000270361.11:p.Val214Ala
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.652T>C
  hgvsp: ENSP00000270362.6:p.Cys218Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5062T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2640T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.652T>C
  hgvsp: ENSP00000400144.1:p.Cys218Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.184T>C
  hgvsp: ENSP00000407090.1:p.Cys62Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.652T>C
  hgvsp: ENSP00000375844.2:p.Cys218Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.652T>C
  hgvsp: ENSP00000349556.4:p.Cys218Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.652T>C
  hgvsp: ENSP00000375843.3:p.Cys218Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.652T>C
  hgvsp: ENSP00000384422.3:p.Cys218Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.652T>C
  hgvsp: ENSP00000375842.2:p.Cys218Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2231T>C
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20581
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys218Arg
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: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-241531548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531548
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531548
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 30578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.658C>T
  hgvsp: ENSP00000270361.11:p.Arg220Cys
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2248C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.669C>T
  hgvsp: ENST00000391984.2:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.669C>T
  hgvsp: ENST00000416591.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.669C>T
  hgvsp: ENST00000357048.4:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.669C>T
  hgvsp: ENST00000354082.4:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.669C>T
  hgvsp: ENST00000391983.3:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.669C>T
  hgvsp: ENST00000404753.3:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.201C>T
  hgvsp: ENST00000432084.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5079C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.669C>T
  hgvsp: ENST00000391982.2:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2657C>T
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16984
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24903
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg220Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-241531549-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531549
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531549
    reference: chr 2
allele count: 1
allele frequency: 3.282563025210084e-5
allele num: 30464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2249G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.670G>A
  hgvsp: ENSP00000375844.2:p.Val224Met
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.670G>A
  hgvsp: ENSP00000384422.3:p.Val224Met
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.670G>A
  hgvsp: ENSP00000349556.4:p.Val224Met
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.670G>A
  hgvsp: ENSP00000270362.6:p.Val224Met
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.670G>A
  hgvsp: ENSP00000400144.1:p.Val224Met
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.202G>A
  hgvsp: ENSP00000407090.1:p.Val68Met
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.670G>A
  hgvsp: ENSP00000375842.2:p.Val224Met
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.670G>A
  hgvsp: ENSP00000375843.3:p.Val224Met
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.659G>A
  hgvsp: ENSP00000270361.11:p.Arg220His
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5080G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2658G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val224Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/2-241531558-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531558
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 27338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.679C>A
  hgvsp: ENSP00000384422.3:p.Pro227Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.211C>A
  hgvsp: ENSP00000407090.1:p.Pro71Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.679C>A
  hgvsp: ENSP00000375844.2:p.Pro227Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.679C>A
  hgvsp: ENSP00000375842.2:p.Pro227Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.679C>A
  hgvsp: ENSP00000349556.4:p.Pro227Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.668C>A
  hgvsp: ENSP00000270361.11:p.Pro223His
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.679C>A
  hgvsp: ENSP00000270362.6:p.Pro227Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2258C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.679C>A
  hgvsp: ENSP00000375843.3:p.Pro227Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.679C>A
  hgvsp: ENSP00000400144.1:p.Pro227Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2667C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5089C>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro227Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

2-241531562-G-GAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531565
    reference: chr 2
allele count: 1
allele frequency: 3.892565200467108e-5
allele num: 25690
alternate allele: GAGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.686_688dupCAG
  hgvsp: ENSP00000349556.4:p.Ala229dup
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.686_688dupCAG
  hgvsp: ENSP00000400144.1:p.Ala229dup
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.686_688dupCAG
  hgvsp: ENSP00000270362.6:p.Ala229dup
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.218_220dupCAG
  hgvsp: ENSP00000407090.1:p.Ala73dup
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.686_688dupCAG
  hgvsp: ENSP00000375844.2:p.Ala229dup
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.686_688dupCAG
  hgvsp: ENSP00000384422.3:p.Ala229dup
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2265_2267dupCAG
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.686_688dupCAG
  hgvsp: ENSP00000375842.2:p.Ala229dup
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.675_677dupCAG
  hgvsp: ENSP00000270361.11:p.Ser225dup
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2674_273+2676dupCAG
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.686_688dupCAG
  hgvsp: ENSP00000375843.3:p.Ala229dup
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5096_141+5098dupCAG
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala229dup
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-241531564-GCAGGTGAGGCACGTGGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531564
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531547
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 24780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.688+1_688+17delGTGAGGCACGTGGCCAG
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: GCAGGTGAGGCACGTGGC
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-241531575-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531575
    reference: chr 2
allele count: 1395
allele frequency: 6.340909090909091e-2
allele num: 22000
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+8A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5106A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2684A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+8A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+8A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+8A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+8A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+8A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+8A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+8A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+8A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+8A>G
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 2.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 7.5e0
  variant carriers: 1310
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 1.25e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.25e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 28602
  bin: 2.5e0
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
hgvs: c.688+8A>G
num of homozygotes: 49
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-241531583-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531583
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+16A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2692A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+16A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+16A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+16A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+16A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5114A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+16A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+16A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+16A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+16A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+16A>G
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

2-241531584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531584
    reference: chr 2
allele count: 2329
allele frequency: 1.168238362760835e-1
allele num: 19936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5115G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2693G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+17G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+17G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+17G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+17G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+17G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+17G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+17G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+17G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+17G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+17G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.75e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 29161
  bin: 2.5e0
  variant carriers: 827
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 2.25e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 7.5e0
  variant carriers: 2290
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.25e1
  variant carriers: 264
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 144
genotype quality: GenotypeQuality
num of homozygotes: 140
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-241531588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531588
    reference: chr 2
allele count: 5
allele frequency: 2.631855984840509e-4
allele num: 18998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+21G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+21G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+21G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+21G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+21G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+21G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+21G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5119G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2697G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+21G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+21G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+21G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32048
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-241531589-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531589
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 18890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+22G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+22G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+22G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2698G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+22G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+22G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5120G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+22G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+22G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+22G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+22G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+22G>T
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32075
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-241531594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531594
    reference: chr 2
allele count: 4
allele frequency: 2.261420171867933e-4
allele num: 17688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5125G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+27G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+27G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+27G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2703G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+27G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+27G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+27G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+27G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+27G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+27G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+27G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-241531600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531600
    reference: chr 2
allele count: 2
allele frequency: 1.154201292705448e-4
allele num: 17328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5131G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+33G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+33G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+33G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+33G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+33G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+33G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2709G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+33G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+33G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+33G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+33G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30925
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-241531605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531605
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531605
    reference: chr 2
allele count: 1
allele frequency: 5.987306909352173e-5
allele num: 16702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2714C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+38C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+38C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+38C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+38C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+38C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+38C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+38C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+38C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5136C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+38C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+38C>T
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30786
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-241531606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531606
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531606
    reference: chr 2
allele count: 2
allele frequency: 1.194600406164138e-4
allele num: 16742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+39G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+39G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+39G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+39G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2715G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+39G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+39G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5137G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+39G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+39G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+39G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+39G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30728
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-241531610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531610
    reference: chr 2
allele count: 25
allele frequency: 1.535815210713847e-3
allele num: 16278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+43C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+43C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5141C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2719C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+43C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+43C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+43C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+43C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+43C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+43C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+43C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+43C>T
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30315
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-241531610-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531610
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 16278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+43C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.220+43C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+43C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+43C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+43C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+43C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5141C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+43C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+43C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2719C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+43C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+43C>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

2-241531851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531851
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531851
    reference: chr 2
allele count: 1
allele frequency: 6.054734802615645e-5
allele num: 16516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+284C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+284C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+284C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+2960C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+284C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+284C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+284C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+284C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+284C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.221-45C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.141+5382C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+284C>T
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

2-241531899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531899
    reference: chr 2
allele count: 104
allele frequency: 6.304558680892337e-3
allele num: 16496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.224T>C
  hgvsp: ENSP00000407090.1:p.Ile75Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+3008T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+332T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+332T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+332T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+332T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+332T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+332T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+332T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-5406T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+332T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+332T>C
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile75Thr
num of homozygotes: 2
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-241531911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531911
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531911
    reference: chr 2
allele count: 2
allele frequency: 1.21713729308666e-4
allele num: 16432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.236G>A
  hgvsp: ENSP00000407090.1:p.Arg79His
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+344G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+3020G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+344G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+344G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-5394G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+344G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+344G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+344G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+344G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+344G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+344G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg79His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-241531954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241531954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241531954
    reference: chr 2
allele count: 903
allele frequency: 5.539877300613497e-2
allele num: 16300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-5351G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.688+387G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000407090
  ensembl transcript: ENST00000432084
  gene symbol: CAPN10
  hgvsc: ENST00000432084.1:c.*39G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+3063G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.688+387G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.688+387G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.688+387G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.677+387G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.688+387G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.688+387G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.688+387G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2267+387G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 2.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
num of homozygotes: 32
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-241533275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533275
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533275
    reference: chr 2
allele count: 62
allele frequency: 5.544823638835229e-4
allele num: 111816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.689-48G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4384G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.689-48G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-4030G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.689-48G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.689-48G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2268-48G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.689-48G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.678-48G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.689-48G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.689-48G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 9.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-241533293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533293
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533293
    reference: chr 2
allele count: 1
allele frequency: 8.934474563550918e-6
allele num: 111926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.689-30C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.689-30C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.689-30C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.689-30C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.689-30C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4402C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2268-30C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.689-30C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.689-30C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.678-30C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-4012C>T
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-241533295-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533295
    reference: chr 2
allele count: 4
allele frequency: 3.567797063703017e-5
allele num: 112114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.689-28G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2268-28G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.689-28G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.689-28G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.689-28G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.689-28G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.689-28G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-4010G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4404G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.678-28G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.689-28G>C
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-241533296-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533296
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533296
    reference: chr 2
allele count: 1
allele frequency: 8.920288303717977e-6
allele num: 112104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.689-27C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.689-27C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.689-27C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.689-27C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2268-27C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4405C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.689-27C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.689-27C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-4009C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.689-27C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.678-27C>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-241533302-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533302
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533302
    reference: chr 2
allele count: 1
allele frequency: 8.890311338703082e-6
allele num: 112482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4411C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2268-21C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.689-21C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.678-21C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.689-21C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.689-21C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.689-21C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.689-21C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-4003C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.689-21C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.689-21C>T
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-241533306-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533306
    reference: chr 2
allele count: 1
allele frequency: 8.863676653075696e-6
allele num: 112820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.689-17C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3999C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2268-17C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.689-17C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.689-17C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4415C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.689-17C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.689-17C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.689-17C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.689-17C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.678-17C>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-241533306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533306
    reference: chr 2
allele count: 15
allele frequency: 1.329551497961354e-4
allele num: 112820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.689-17C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3999C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.689-17C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.689-17C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4415C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2268-17C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.689-17C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.689-17C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.689-17C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.689-17C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.678-17C>T
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-241533307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533307
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533307
    reference: chr 2
allele count: 3
allele frequency: 2.653458340704051e-5
allele num: 113060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4416G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.689-16G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.689-16G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.689-16G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.689-16G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.689-16G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.678-16G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.689-16G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2268-16G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3998G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.689-16G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

2-241533311-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533311
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533311
    reference: chr 2
allele count: 2
allele frequency: 1.761835127468772e-5
allele num: 113518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.689-12T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.689-12T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.689-12T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2268-12T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4420T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.689-12T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.678-12T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.689-12T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.689-12T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.689-12T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3994T>C
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

2-241533317-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533317
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533317
    reference: chr 2
allele count: 1
allele frequency: 8.76439551964101e-6
allele num: 114098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.689-6A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.689-6A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.689-6A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.689-6A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.689-6A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2268-6A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.678-6A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.689-6A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3988A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4426A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.689-6A>G
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.689-6A>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

2-241533328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533328
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533328
    reference: chr 2
allele count: 14
allele frequency: 1.212898307140506e-4
allele num: 115426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.694C>T
  hgvsp: ENSP00000270362.6:p.Arg232Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3977C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4437C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.694C>T
  hgvsp: ENSP00000375843.3:p.Arg232Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2273C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.694C>T
  hgvsp: ENSP00000400144.1:p.Arg232Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.694C>T
  hgvsp: ENSP00000375842.2:p.Arg232Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.694C>T
  hgvsp: ENSP00000384422.3:p.Arg232Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.694C>T
  hgvsp: ENSP00000375844.2:p.Arg232Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.683C>T
  hgvsp: ENSP00000270361.11:p.Pro228Leu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.694C>T
  hgvsp: ENSP00000349556.4:p.Arg232Trp
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg232Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

2-241533329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533329
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533329
    reference: chr 2
allele count: 6
allele frequency: 5.180899749589846e-5
allele num: 115810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.695G>A
  hgvsp: ENSP00000400144.1:p.Arg232Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.695G>A
  hgvsp: ENSP00000384422.3:p.Arg232Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.695G>A
  hgvsp: ENSP00000349556.4:p.Arg232Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4438G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.695G>A
  hgvsp: ENSP00000375843.3:p.Arg232Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.695G>A
  hgvsp: ENSP00000375842.2:p.Arg232Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3976G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.695G>A
  hgvsp: ENSP00000375844.2:p.Arg232Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2274G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.695G>A
  hgvsp: ENSP00000270362.6:p.Arg232Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.684G>A
  hgvsp: ENST00000270361.11:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg232Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-241533330-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533330
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533330
    reference: chr 2
allele count: 2
allele frequency: 1.72398931126627e-5
allele num: 116010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4439G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.696G>A
  hgvsp: ENST00000416591.1:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3975G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.696G>A
  hgvsp: ENST00000354082.4:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.696G>A
  hgvsp: ENST00000391982.2:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.685G>A
  hgvsp: ENSP00000270361.11:p.Gly229Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.696G>A
  hgvsp: ENST00000391983.3:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.696G>A
  hgvsp: ENST00000404753.3:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.696G>A
  hgvsp: ENST00000391984.2:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2275G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.696G>A
  hgvsp: ENST00000357048.4:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly229Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-241533334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533334
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533334
    reference: chr 2
allele count: 3
allele frequency: 2.574532722310901e-5
allele num: 116526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.700C>T
  hgvsp: ENST00000391983.3:c.700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.700C>T
  hgvsp: ENST00000391984.2:c.700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3971C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4443C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.700C>T
  hgvsp: ENST00000391982.2:c.700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.700C>T
  hgvsp: ENST00000416591.1:c.700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.700C>T
  hgvsp: ENST00000404753.3:c.700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.689C>T
  hgvsp: ENSP00000270361.11:p.Ala230Val
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2279C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.700C>T
  hgvsp: ENST00000357048.4:c.700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.700C>T
  hgvsp: ENST00000354082.4:c.700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14417
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala230Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-241533340-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533340
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533340
    reference: chr 2
allele count: 10
allele frequency: 8.494733265375468e-5
allele num: 117720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.706G>C
  hgvsp: ENSP00000349556.4:p.Glu236Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.706G>C
  hgvsp: ENSP00000384422.3:p.Glu236Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.706G>C
  hgvsp: ENSP00000375843.3:p.Glu236Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2285G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.695G>C
  hgvsp: ENSP00000270361.11:p.Gly232Ala
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4449G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.706G>C
  hgvsp: ENSP00000270362.6:p.Glu236Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3965G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.706G>C
  hgvsp: ENSP00000375844.2:p.Glu236Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.706G>C
  hgvsp: ENSP00000400144.1:p.Glu236Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.706G>C
  hgvsp: ENSP00000375842.2:p.Glu236Gln
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu236Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-241533342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533342
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533342
    reference: chr 2
allele count: 1
allele frequency: 8.473427331887202e-6
allele num: 118016
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.708G>A
  hgvsp: ENST00000391984.2:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.697G>A
  hgvsp: ENSP00000270361.11:p.Val233Ile
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.708G>A
  hgvsp: ENST00000391983.3:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.708G>A
  hgvsp: ENST00000357048.4:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.708G>A
  hgvsp: ENST00000404753.3:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3963G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.708G>A
  hgvsp: ENST00000416591.1:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.708G>A
  hgvsp: ENST00000354082.4:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.708G>A
  hgvsp: ENST00000391982.2:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4451G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2287G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val233Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-241533345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533345
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533345
    reference: chr 2
allele count: 4461
allele frequency: 3.766336834284557e-2
allele num: 118444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3960C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.711C>T
  hgvsp: ENST00000391984.2:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.700C>T
  hgvsp: ENSP00000270361.11:p.Pro234Ser
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4454C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.711C>T
  hgvsp: ENST00000416591.1:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.711C>T
  hgvsp: ENST00000404753.3:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.711C>T
  hgvsp: ENST00000357048.4:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.711C>T
  hgvsp: ENST00000354082.4:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.711C>T
  hgvsp: ENST00000391983.3:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2290C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.711C>T
  hgvsp: ENST00000391982.2:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 2.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 14685
  bin: 2.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 13641
  bin: 3.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
hgvs: p.Pro234Ser
num of homozygotes: 117
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-241533346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533346
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533346
    reference: chr 2
allele count: 1
allele frequency: 8.43668269636379e-6
allele num: 118530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3959C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.712C>T
  hgvsp: ENSP00000384422.3:p.His238Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.712C>T
  hgvsp: ENSP00000375843.3:p.His238Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.701C>T
  hgvsp: ENSP00000270361.11:p.Pro234Leu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.712C>T
  hgvsp: ENSP00000270362.6:p.His238Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2291C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.712C>T
  hgvsp: ENSP00000375844.2:p.His238Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.712C>T
  hgvsp: ENSP00000349556.4:p.His238Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.712C>T
  hgvsp: ENSP00000375842.2:p.His238Tyr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4455C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.712C>T
  hgvsp: ENSP00000400144.1:p.His238Tyr
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His238Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD

2-241533350-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533350
    reference: chr 2
allele count: 1
allele frequency: 8.412126922171002e-6
allele num: 118876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.705C>G
  hgvsp: ENSP00000270361.11:p.Cys235Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.716C>G
  hgvsp: ENSP00000400144.1:p.Ala239Gly
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.716C>G
  hgvsp: ENSP00000270362.6:p.Ala239Gly
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.716C>G
  hgvsp: ENSP00000375842.2:p.Ala239Gly
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3955C>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.716C>G
  hgvsp: ENSP00000349556.4:p.Ala239Gly
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.716C>G
  hgvsp: ENSP00000384422.3:p.Ala239Gly
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.716C>G
  hgvsp: ENSP00000375843.3:p.Ala239Gly
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2295C>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4459C>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.716C>G
  hgvsp: ENSP00000375844.2:p.Ala239Gly
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala239Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

2-241533356-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533356
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533356
    reference: chr 2
allele count: 2
allele frequency: 1.675182176061647e-5
allele num: 119390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3949T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.722T>C
  hgvsp: ENSP00000400144.1:p.Ile241Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.722T>C
  hgvsp: ENSP00000375842.2:p.Ile241Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.722T>C
  hgvsp: ENSP00000375844.2:p.Ile241Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.722T>C
  hgvsp: ENSP00000375843.3:p.Ile241Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.722T>C
  hgvsp: ENSP00000270362.6:p.Ile241Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4465T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.722T>C
  hgvsp: ENSP00000349556.4:p.Ile241Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2301T>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.711T>C
  hgvsp: ENST00000270361.11:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.722T>C
  hgvsp: ENSP00000384422.3:p.Ile241Thr
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ile241Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-241533362-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533362
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533362
    reference: chr 2
allele count: 3
allele frequency: 2.50501002004008e-5
allele num: 119760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.717C>T
  hgvsp: ENST00000270361.11:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2307C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.728C>T
  hgvsp: ENSP00000400144.1:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.728C>T
  hgvsp: ENSP00000375842.2:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.728C>T
  hgvsp: ENSP00000349556.4:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.728C>T
  hgvsp: ENSP00000270362.6:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3943C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.728C>T
  hgvsp: ENSP00000375843.3:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.728C>T
  hgvsp: ENSP00000375844.2:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4471C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.728C>T
  hgvsp: ENSP00000384422.3:p.Ser243Leu
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser243Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

2-241533363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533363
    reference: chr 2
allele count: 2
allele frequency: 1.669058984544514e-5
allele num: 119828
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.729G>A
  hgvsp: ENST00000391984.2:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.729G>A
  hgvsp: ENST00000354082.4:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.729G>A
  hgvsp: ENST00000416591.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4472G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.729G>A
  hgvsp: ENST00000404753.3:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.718G>A
  hgvsp: ENSP00000270361.11:p.Gly240Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3942G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.729G>A
  hgvsp: ENST00000391982.2:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.729G>A
  hgvsp: ENST00000391983.3:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2308G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.729G>A
  hgvsp: ENST00000357048.4:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly240Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

2-241533370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533370
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533370
    reference: chr 2
allele count: 3
allele frequency: 2.500166677778519e-5
allele num: 119992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3935C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.736C>T
  hgvsp: ENSP00000375842.2:p.Arg246Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4479C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.725C>T
  hgvsp: ENSP00000270361.11:p.Ala242Val
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.736C>T
  hgvsp: ENSP00000384422.3:p.Arg246Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.736C>T
  hgvsp: ENSP00000270362.6:p.Arg246Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.736C>T
  hgvsp: ENSP00000400144.1:p.Arg246Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.736C>T
  hgvsp: ENSP00000349556.4:p.Arg246Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.736C>T
  hgvsp: ENSP00000375844.2:p.Arg246Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2315C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.736C>T
  hgvsp: ENSP00000375843.3:p.Arg246Trp
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg246Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-241533371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533371
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533371
    reference: chr 2
allele count: 2
allele frequency: 1.666750004166875e-5
allele num: 119994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2316G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.737G>A
  hgvsp: ENSP00000270362.6:p.Arg246Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.737G>A
  hgvsp: ENSP00000349556.4:p.Arg246Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.726G>A
  hgvsp: ENST00000270361.11:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.737G>A
  hgvsp: ENSP00000400144.1:p.Arg246Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.737G>A
  hgvsp: ENSP00000375843.3:p.Arg246Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.737G>A
  hgvsp: ENSP00000384422.3:p.Arg246Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.737G>A
  hgvsp: ENSP00000375842.2:p.Arg246Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.737G>A
  hgvsp: ENSP00000375844.2:p.Arg246Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3934G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4480G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg246Gln
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-241533371-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533371
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533371
    reference: chr 2
allele count: 2
allele frequency: 1.666750004166875e-5
allele num: 119994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.737G>C
  hgvsp: ENSP00000349556.4:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.737G>C
  hgvsp: ENSP00000375844.2:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.737G>C
  hgvsp: ENSP00000384422.3:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4480G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.726G>C
  hgvsp: ENST00000270361.11:c.726G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.737G>C
  hgvsp: ENSP00000375842.2:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.737G>C
  hgvsp: ENSP00000375843.3:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.737G>C
  hgvsp: ENSP00000400144.1:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.737G>C
  hgvsp: ENSP00000270362.6:p.Arg246Pro
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2316G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3934G>C
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg246Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

2-241533372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533372
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533372
    reference: chr 2
allele count: 5
allele frequency: 4.165902917798404e-5
allele num: 120022
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.738G>A
  hgvsp: ENST00000391984.2:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4481G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.738G>A
  hgvsp: ENST00000404753.3:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.738G>A
  hgvsp: ENST00000416591.1:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.727G>A
  hgvsp: ENSP00000270361.11:p.Gly243Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.738G>A
  hgvsp: ENST00000354082.4:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3933G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.738G>A
  hgvsp: ENST00000391982.2:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.738G>A
  hgvsp: ENST00000357048.4:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.738G>A
  hgvsp: ENST00000391983.3:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2317G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly243Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-241533386-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533386
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533386
    reference: chr 2
allele count: 15
allele frequency: 1.24935450017491e-4
allele num: 120062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.752A>G
  hgvsp: ENSP00000400144.1:p.Gln251Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3919A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.752A>G
  hgvsp: ENSP00000384422.3:p.Gln251Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.752A>G
  hgvsp: ENSP00000270362.6:p.Gln251Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.752A>G
  hgvsp: ENSP00000375844.2:p.Gln251Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4495A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.752A>G
  hgvsp: ENSP00000375843.3:p.Gln251Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2331A>G
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.752A>G
  hgvsp: ENSP00000375842.2:p.Gln251Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.752A>G
  hgvsp: ENSP00000349556.4:p.Gln251Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.741A>G
  hgvsp: ENST00000270361.11:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln251Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-241533387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533387
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533387
    reference: chr 2
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.753G>A
  hgvsp: ENST00000416591.1:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2332G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3918G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.742G>A
  hgvsp: ENSP00000270361.11:p.Gly248Ser
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.753G>A
  hgvsp: ENST00000391984.2:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.753G>A
  hgvsp: ENST00000391983.3:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.753G>A
  hgvsp: ENST00000357048.4:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.753G>A
  hgvsp: ENST00000391982.2:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.753G>A
  hgvsp: ENST00000404753.3:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4496G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.753G>A
  hgvsp: ENST00000354082.4:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly248Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

2-241533389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533389
    reference: chr 2
allele count: 3
allele frequency: 2.49904203388701e-5
allele num: 120046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.755C>T
  hgvsp: ENSP00000375843.3:p.Ala252Val
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4498C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.755C>T
  hgvsp: ENSP00000375844.2:p.Ala252Val
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.755C>T
  hgvsp: ENSP00000349556.4:p.Ala252Val
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.755C>T
  hgvsp: ENSP00000270362.6:p.Ala252Val
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2334C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3916C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.755C>T
  hgvsp: ENSP00000384422.3:p.Ala252Val
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.755C>T
  hgvsp: ENSP00000375842.2:p.Ala252Val
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.744C>T
  hgvsp: ENST00000270361.11:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.755C>T
  hgvsp: ENSP00000400144.1:p.Ala252Val
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala252Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

2-241533411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533411
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533411
    reference: chr 2
allele count: 4
allele frequency: 3.343978331020415e-5
allele num: 119618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.777G>A
  hgvsp: ENST00000391982.2:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.766G>A
  hgvsp: ENSP00000270361.11:p.Ala256Thr
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4520G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2356G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.777G>A
  hgvsp: ENST00000357048.4:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.777G>A
  hgvsp: ENST00000391984.2:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.777G>A
  hgvsp: ENST00000416591.1:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.777G>A
  hgvsp: ENST00000391983.3:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.777G>A
  hgvsp: ENST00000404753.3:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.777G>A
  hgvsp: ENST00000354082.4:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3894G>A
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala256Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-241533412-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533412
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533412
    reference: chr 2
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.778C>A
  hgvsp: ENST00000404753.3:c.778C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3893C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.778C>A
  hgvsp: ENST00000354082.4:c.778C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.767C>A
  hgvsp: ENSP00000270361.11:p.Ala256Glu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.778C>A
  hgvsp: ENST00000391982.2:c.778C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.778C>A
  hgvsp: ENST00000391983.3:c.778C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.778C>A
  hgvsp: ENST00000357048.4:c.778C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2357C>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.778C>A
  hgvsp: ENST00000391984.2:c.778C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.778C>A
  hgvsp: ENST00000416591.1:c.778C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4521C>A
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala256Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-241533413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533413
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533413
    reference: chr 2
allele count: 8
allele frequency: 6.692992436918547e-5
allele num: 119528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4522G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.779G>A
  hgvsp: ENSP00000400144.1:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2358G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.768G>A
  hgvsp: ENST00000270361.11:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.779G>A
  hgvsp: ENSP00000375844.2:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.779G>A
  hgvsp: ENSP00000375843.3:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.779G>A
  hgvsp: ENSP00000384422.3:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.779G>A
  hgvsp: ENSP00000349556.4:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3892G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.779G>A
  hgvsp: ENSP00000270362.6:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.779G>A
  hgvsp: ENSP00000375842.2:p.Arg260Gln
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg260Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-241533424-CCCTGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533424
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533418
    reference: chr 2
allele count: 2
allele frequency: 1.687251130458257e-5
allele num: 118536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.791_796delCCTGGG
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.780_785delCCTGGG
  hgvsp: ENSP00000270361.11:p.Leu261_Gly262del
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.791_796delCCTGGG
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.791_796delCCTGGG
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.791_796delCCTGGG
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.791_796delCCTGGG
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.791_796delCCTGGG
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2370_2375delCCTGGG
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.791_796delCCTGGG
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro264_Gly266delinsArg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: CCCTGGG
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-241533433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533433
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533433
    reference: chr 2
allele count: 2
allele frequency: 1.709577050637672e-5
allele num: 116988
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.799C>T
  hgvsp: ENSP00000375844.2:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.799C>T
  hgvsp: ENSP00000384422.3:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4542C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.799C>T
  hgvsp: ENSP00000400144.1:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.788C>T
  hgvsp: ENSP00000270361.11:p.Pro263Leu
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3872C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.799C>T
  hgvsp: ENSP00000375843.3:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.799C>T
  hgvsp: ENSP00000375842.2:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.799C>T
  hgvsp: ENSP00000270362.6:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.799C>T
  hgvsp: ENSP00000349556.4:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2378C>T
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg267Trp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-241533434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533434
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533434
    reference: chr 2
allele count: 1
allele frequency: 8.583396278239373e-6
allele num: 116504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.800G>A
  hgvsp: ENSP00000375844.2:p.Arg267Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.800G>A
  hgvsp: ENSP00000384422.3:p.Arg267Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.800G>A
  hgvsp: ENSP00000270362.6:p.Arg267Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.800G>A
  hgvsp: ENSP00000400144.1:p.Arg267Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.800G>A
  hgvsp: ENSP00000375842.2:p.Arg267Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.800G>A
  hgvsp: ENSP00000375843.3:p.Arg267Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2379G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4543G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3871G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.800G>A
  hgvsp: ENSP00000349556.4:p.Arg267Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.789G>A
  hgvsp: ENST00000270361.11:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg267Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-241533436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533436
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533436
    reference: chr 2
allele count: 1
allele frequency: 8.587229072922749e-6
allele num: 116452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.802C>T
  hgvsp: ENSP00000384422.3:p.Arg268Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2381C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3869C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4545C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.802C>T
  hgvsp: ENSP00000349556.4:p.Arg268Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.802C>T
  hgvsp: ENSP00000375844.2:p.Arg268Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.802C>T
  hgvsp: ENSP00000400144.1:p.Arg268Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.802C>T
  hgvsp: ENSP00000375842.2:p.Arg268Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.791C>T
  hgvsp: ENSP00000270361.11:p.Ala264Val
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.802C>T
  hgvsp: ENSP00000270362.6:p.Arg268Trp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.802C>T
  hgvsp: ENSP00000375843.3:p.Arg268Trp
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg268Trp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-241533437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533437
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533437
    reference: chr 2
allele count: 4
allele frequency: 3.445721275606016e-5
allele num: 116086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4546G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.803G>A
  hgvsp: ENSP00000400144.1:p.Arg268Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3868G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.803G>A
  hgvsp: ENSP00000384422.3:p.Arg268Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.803G>A
  hgvsp: ENSP00000375842.2:p.Arg268Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.803G>A
  hgvsp: ENSP00000375844.2:p.Arg268Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.792G>A
  hgvsp: ENST00000270361.11:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.803G>A
  hgvsp: ENSP00000375843.3:p.Arg268Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2382G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.803G>A
  hgvsp: ENSP00000270362.6:p.Arg268Gln
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.803G>A
  hgvsp: ENSP00000349556.4:p.Arg268Gln
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15346
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg268Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-241533441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533441
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533441
    reference: chr 2
allele count: 1
allele frequency: 8.658758334054896e-6
allele num: 115490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.807C>T
  hgvsp: ENST00000354082.4:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.796C>T
  hgvsp: ENST00000270361.11:c.796C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.807C>T
  hgvsp: ENST00000391982.2:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.807C>T
  hgvsp: ENST00000404753.3:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.807C>T
  hgvsp: ENST00000391984.2:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.807C>T
  hgvsp: ENST00000416591.1:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2386C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.807C>T
  hgvsp: ENST00000357048.4:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3864C>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.807C>T
  hgvsp: ENST00000391983.3:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4550C>T
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys269Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-241533455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533455
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533455
    reference: chr 2
allele count: 3
allele frequency: 2.633380734186549e-5
allele num: 113922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4564G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.821G>A
  hgvsp: ENSP00000384422.3:p.Trp274Ter
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2400G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.821G>A
  hgvsp: ENSP00000375842.2:p.Trp274Ter
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3850G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.821G>A
  hgvsp: ENSP00000375844.2:p.Trp274Ter
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.821G>A
  hgvsp: ENSP00000349556.4:p.Trp274Ter
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.821G>A
  hgvsp: ENSP00000400144.1:p.Trp274Ter
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.821G>A
  hgvsp: ENSP00000375843.3:p.Trp274Ter
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.821G>A
  hgvsp: ENSP00000270362.6:p.Trp274Ter
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.810G>A
  hgvsp: ENST00000270361.11:c.810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp274Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-241533456-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533456
    reference: chr 2
allele count: 1
allele frequency: 8.778860503906592e-6
allele num: 113910
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.822G>T
  hgvsp: ENSP00000375844.2:p.Trp274Cys
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.811G>T
  hgvsp: ENSP00000270361.11:p.Glu271Ter
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4565G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2401G>T
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.822G>T
  hgvsp: ENSP00000375843.3:p.Trp274Cys
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.822G>T
  hgvsp: ENSP00000349556.4:p.Trp274Cys
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.822G>T
  hgvsp: ENSP00000375842.2:p.Trp274Cys
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.822G>T
  hgvsp: ENSP00000384422.3:p.Trp274Cys
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.822G>T
  hgvsp: ENSP00000400144.1:p.Trp274Cys
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.822G>T
  hgvsp: ENSP00000270362.6:p.Trp274Cys
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3849G>T
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu271Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-241533462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533462
    reference: chr 2
allele count: 338
allele frequency: 2.983493688763351e-3
allele num: 113290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4571G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3843G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.828G>A
  hgvsp: ENST00000416591.1:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000349556
  ensembl transcript: ENST00000357048
  gene symbol: CAPN10
  hgvsc: ENST00000357048.4:c.828G>A
  hgvsp: ENST00000357048.4:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.828G>A
  hgvsp: ENST00000391982.2:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.817G>A
  hgvsp: ENSP00000270361.11:p.Gly273Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2407G>A
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.828G>A
  hgvsp: ENST00000354082.4:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.828G>A
  hgvsp: ENST00000391984.2:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.828G>A
  hgvsp: ENST00000391983.3:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.828G>A
  hgvsp: ENST00000404753.3:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1477
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 13848
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 14191
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 7933
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
hgvs: p.Gly273Arg
num of homozygotes: 2
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

2-241533462-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241533462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241533462
    reference: chr 2
allele count: 29
allele frequency: 2.559802277341336e-4
allele num: 113290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375842
  ensembl transcript: ENST00000391982
  gene symbol: CAPN10
  hgvsc: ENST00000391982.2:c.828G>C
  hgvsp: ENSP00000375842.2:p.Glu276Asp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270361
  ensembl transcript: ENST00000270361
  gene symbol: CAPN10
  hgvsc: ENST00000270361.11:c.817G>C
  hgvsp: ENSP00000270361.11:p.Gly273Arg
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000289381
  ensembl transcript: ENST00000352879
  gene symbol: CAPN10
  hgvsc: ENST00000352879.4:c.142-3843G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375843
  ensembl transcript: ENST00000391983
  gene symbol: CAPN10
  hgvsc: ENST00000391983.3:c.828G>C
  hgvsp: ENSP00000375843.3:p.Glu276Asp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000400144
  ensembl transcript: ENST00000416591
  gene symbol: CAPN10
  hgvsc: ENST00000416591.1:c.828G>C
  hgvsp: ENSP00000400144.1:p.Glu276Asp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142330
  ensembl transcript: ENST00000494738
  gene symbol: CAPN10
  hgvsc: ENST00000494738.1:n.2407G>C
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270362
  ensembl transcript: ENST00000354082
  gene symbol: CAPN10
  hgvsc: ENST00000354082.4:c.828G>C
  hgvsp: ENSP00000270362.6:p.Glu276Asp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000375844
  ensembl transcript: ENST00000391984
  gene symbol: CAPN10
  hgvsc: ENST00000391984.2:c.828G>C
  hgvsp: ENSP00000375844.2:p.Glu276Asp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000384422
  ensembl transcript: ENST00000404753
  gene symbol: CAPN10
  hgvsc: ENST00000404753.3:c.828G>C
  hgvsp: ENSP00000384422.3:p.Glu276Asp
  variant of: http://identifiers.org/hgnc/1477
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142330
  ensembl protein: ENSP00000270364
  ensembl transcript: ENST00000270364
  gene symbol: CAPN10
  hgvsc: ENST00000270364.7:c.273+4571G>C
  variant of: http://identifiers.org/hgnc/1477
canonical: true
consequence: missense
filter: PASS
hgvs: p.Glu276Asp
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 1235
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1562
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11864
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28529
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2268
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.785515320334262e-4
allele num: 3590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.533e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.56e-2

DP
type: SiteQuality
SIO_000300: 7.22847e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.34e0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5197
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28054
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12655
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 397
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3460
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.959247648902821e-4
allele num: 10208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.657109420713868e-5
allele num: 27344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2054
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.158e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.249e0

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 7.07985e5

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeDepth
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele count: 1
allele frequency: 9.900990099009902e-5
allele num: 10100
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 4982
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26724
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

QD
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SIO_000300: 1.464e1

BaseQRankSum
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SIO_000300: -1.234e0

ClippingRankSum
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SIO_000300: 2.03e-1

VQSLOD
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MQ
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InbreedingCoeff
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DP
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FS
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MQRankSum
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SIO_000300: -7.55e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26368
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1934
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10076
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.82e-2

MQ
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DP
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: -7.36e-1

ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 387
bin: 3.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 2.180549498473615e-4
allele num: 4586
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23874
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1260
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
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SIO_000300: 3.259e0

ReadPosRankSum
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SIO_000300: 1.87e0

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: -3.32e-2

DP
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SIO_000300: 6.53564e5

ClippingRankSum
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SIO_000300: -3.65e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

European (Non-Finnish)
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allele count: 10
allele frequency: 4.330129037845328e-4
allele num: 23094
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

VQSLOD
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SIO_000300: 1.18e0

BaseQRankSum
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SIO_000300: -2.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.51e-2

MQRankSum
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MQ
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SIO_000300: 6.0e1

FS
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SIO_000300: 3.716e0

ClippingRankSum
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SIO_000300: 2.43e-1

ReadPosRankSum
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DP
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SIO_000300: 6.40156e5

QD
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SIO_000300: 1.255e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14940
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1990
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.616e1

InbreedingCoeff
type: SiteQuality
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QD
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VQSLOD
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DP
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FS
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MQRankSum
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ReadPosRankSum
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SIO_000300: 1.23e0

BaseQRankSum
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SIO_000300: 1.23e0

ClippingRankSum
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SIO_000300: -1.231e0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 6.727664155005382e-5
allele num: 14864
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

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

East Asian
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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DP
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MQRankSum
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FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.533e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 4556
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.542627712284299e-5
allele num: 11706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.71e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.09e-1

DP
type: SiteQuality
SIO_000300: 4.80245e5

MQRankSum
type: SiteQuality
SIO_000300: -2.571e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.83e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -6.228e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.4e-1

MQ
type: SiteQuality
SIO_000300: 5.335e1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 188
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GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.68989e5

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQ
type: SiteQuality
SIO_000300: 5.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeDepth
all individuals: 376
bin: 4.25e1
variant carriers: 126

GenotypeDepth
all individuals: 65
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variant carriers: 22

GenotypeDepth
all individuals: 18
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variant carriers: 3

GenotypeDepth
all individuals: 40
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variant carriers: 13

GenotypeQuality
all individuals: 206
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variant carriers: 123

GenotypeQuality
all individuals: 27018
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variant carriers: 138

GenotypeQuality
all individuals: 1765
bin: 1.75e1
variant carriers: 146

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 15

GenotypeQuality
all individuals: 287
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variant carriers: 27

GenotypeQuality
all individuals: 3830
bin: 6.25e1
variant carriers: 33

GenotypeQuality
all individuals: 330
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variant carriers: 52

GenotypeQuality
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GenotypeQuality
all individuals: 7170
bin: 2.25e1
variant carriers: 190

GenotypeQuality
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bin: 1.25e1
variant carriers: 114

GenotypeQuality
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bin: 2.75e1
variant carriers: 96

GenotypeQuality
all individuals: 2295
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variant carriers: 1509

GenotypeQuality
all individuals: 153
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variant carriers: 107

GenotypeQuality
all individuals: 3181
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 258
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variant carriers: 109

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 67

GenotypeQuality
all individuals: 307
bin: 8.25e1
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GenotypeQuality
all individuals: 436
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variant carriers: 17

GenotypeQuality
all individuals: 252
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variant carriers: 141

GenotypeQuality
all individuals: 800
bin: 6.75e1
variant carriers: 29

African
type: Population
allele count: 34
allele frequency: 1.283987915407855e-2
allele num: 2648
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 5.319148936170213e-2
allele num: 188
num of homozygotes: 0

South Asian
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allele count: 641
allele frequency: 7.952853598014889e-2
allele num: 8060
num of homozygotes: 30

East Asian
type: Population
allele count: 34
allele frequency: 3.269230769230769e-2
allele num: 1040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 6.818181818181818e-2
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 651
allele frequency: 6.897647806738716e-2
allele num: 9438
num of homozygotes: 19

Latino
type: Population
allele count: 13
allele frequency: 2.888888888888889e-2
allele num: 450
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.574e1

DP
type: SiteQuality
SIO_000300: 4.32776e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 50
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 265
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variant carriers: 0

GenotypeQuality
all individuals: 221
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GenotypeQuality
all individuals: 524
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variant carriers: 0

GenotypeQuality
all individuals: 28934
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GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 6300
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GenotypeQuality
all individuals: 81
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3825
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GenotypeQuality
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GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 836
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GenotypeQuality
all individuals: 305
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GenotypeQuality
all individuals: 278
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.93974e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -2.103e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
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SIO_000300: 7.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.29e-2

GenotypeDepth
all individuals: 2750
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variant carriers: 552

GenotypeDepth
all individuals: 659
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variant carriers: 188

GenotypeQuality
all individuals: 25071
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GenotypeQuality
all individuals: 3558
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GenotypeQuality
all individuals: 1397
bin: 1.25e1
variant carriers: 209

GenotypeQuality
all individuals: 5383
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variant carriers: 3

GenotypeQuality
all individuals: 304
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variant carriers: 241

GenotypeQuality
all individuals: 827
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GenotypeQuality
all individuals: 264
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variant carriers: 89

GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 538
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variant carriers: 136

GenotypeQuality
all individuals: 751
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variant carriers: 302

GenotypeQuality
all individuals: 258
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variant carriers: 80

GenotypeQuality
all individuals: 260
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variant carriers: 173

GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 176
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GenotypeQuality
all individuals: 1055
bin: 1.75e1
variant carriers: 226

GenotypeQuality
all individuals: 4912
bin: 2.25e1
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GenotypeQuality
all individuals: 2846
bin: 9.75e1
variant carriers: 2394

GenotypeQuality
all individuals: 290
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variant carriers: 223

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 146

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 21

European (Non-Finnish)
type: Population
allele count: 1023
allele frequency: 1.253062224399804e-1
allele num: 8164
num of homozygotes: 50

Latino
type: Population
allele count: 30
allele frequency: 7.352941176470588e-2
allele num: 408
num of homozygotes: 2

South Asian
type: Population
allele count: 1052
allele frequency: 1.340468909276249e-1
allele num: 7848
num of homozygotes: 77

Other
type: Population
allele count: 18
allele frequency: 1.022727272727273e-1
allele num: 176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 39
allele frequency: 3.19672131147541e-1
allele num: 122
num of homozygotes: 4

African
type: Population
allele count: 79
allele frequency: 3.327716933445661e-2
allele num: 2374
num of homozygotes: 1

East Asian
type: Population
allele count: 88
allele frequency: 1.042654028436019e-1
allele num: 844
num of homozygotes: 6

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
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SIO_000300: 1.551e1

BaseQRankSum
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SIO_000300: -1.528e0

FS
type: SiteQuality
SIO_000300: 8.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.84892e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeDepth
all individuals: 113
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variant carriers: 0

GenotypeDepth
all individuals: 57
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GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 1507
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GenotypeQuality
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 521
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GenotypeQuality
all individuals: 3997
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 75
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 2991
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GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 585
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GenotypeQuality
all individuals: 261
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GenotypeQuality
all individuals: 601
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GenotypeQuality
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GenotypeQuality
all individuals: 5664
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GenotypeQuality
all individuals: 119
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 6.599788806758184e-4
allele num: 7576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

FS
type: SiteQuality
SIO_000300: 2.937e0

DP
type: SiteQuality
SIO_000300: 3.53809e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

GenotypeDepth
all individuals: 27
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variant carriers: 0

GenotypeDepth
all individuals: 148
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GenotypeQuality
all individuals: 279
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 594
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GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 826
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29962
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GenotypeQuality
all individuals: 583
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GenotypeQuality
all individuals: 1513
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GenotypeQuality
all individuals: 66
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GenotypeQuality
all individuals: 3032
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GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 118
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GenotypeQuality
all individuals: 214
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GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 756
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GenotypeQuality
all individuals: 68
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.909999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.51229e5

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.848e0

QD
type: SiteQuality
SIO_000300: 1.544e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1767
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.85480093676815e-4
allele num: 6832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
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SIO_000300: -7.4e-2

MQRankSum
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SIO_000300: 3.39e-1

FS
type: SiteQuality
SIO_000300: 3.049e0

BaseQRankSum
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SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 3.20061e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 2
allele frequency: 2.67379679144385e-4
allele num: 7480
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
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SIO_000300: 3.05511e5

FS
type: SiteQuality
SIO_000300: 7.165e0

VQSLOD
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SIO_000300: -1.218e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.51e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.468e0

QD
type: SiteQuality
SIO_000300: 1.286e1

GenotypeDepth
all individuals: 41
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variant carriers: 0

GenotypeDepth
all individuals: 9
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variant carriers: 0

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

GenotypeQuality
all individuals: 1967
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1872
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.370614035087719e-4
allele num: 7296
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.62e-2

QD
type: SiteQuality
SIO_000300: 1.152e1

MQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 2.97315e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 185
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.689189189189189e-3
allele num: 592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.336179295624333e-4
allele num: 1874
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
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SIO_000300: -7.64e-2

MQRankSum
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QD
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ClippingRankSum
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SIO_000300: -2.67e-1

FS
type: SiteQuality
SIO_000300: 5.943e0

BaseQRankSum
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SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.697e-1

DP
type: SiteQuality
SIO_000300: 2.94993e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
all individuals: 161
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 1.374570446735395e-2
allele num: 1746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 1.388503193557345e-4
allele num: 7202
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
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DP
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ReadPosRankSum
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MQ
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FS
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1746
num of homozygotes: 0

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

East Asian
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South Asian
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Other
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VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

QD
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 418
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GenotypeQuality
all individuals: 2251
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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Other
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South Asian
type: Population
allele count: 1
allele frequency: 1.329787234042553e-4
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 5434
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.316e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.551e1

GenotypeDepth
all individuals: 90
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 200
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 186
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 323
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 938
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2183
bin: 9.75e1
variant carriers: 101

GenotypeQuality
all individuals: 3216
bin: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.987303958177745e-3
allele num: 5356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 76
allele frequency: 4.656862745098039e-2
allele num: 1632
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.424657534246575e-3
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.878151260504202e-4
allele num: 7616
num of homozygotes: 0

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

Other
type: Population
allele count: 4
allele frequency: 1.941747572815534e-2
allele num: 206
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

DP
type: SiteQuality
SIO_000300: 3.37724e5

FS
type: SiteQuality
SIO_000300: 1.143e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

GenotypeDepth
all individuals: 2207
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.05761316872428e-3
allele num: 486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.028e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.328e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

MQ
type: SiteQuality
SIO_000300: 5.879e1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 4.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.33652e5

GenotypeDepth
all individuals: 219
bin: 5.25e1
variant carriers: 36

GenotypeDepth
all individuals: 1142
bin: 3.25e1
variant carriers: 141

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1234
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2758
bin: 9.75e1
variant carriers: 858

GenotypeQuality
all individuals: 1789
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 242
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 568
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 420
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 741
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 219
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 62
allele frequency: 3.994845360824742e-2
allele num: 1552
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 2.054794520547945e-2
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.933774834437087e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 236
allele frequency: 4.481579946828713e-2
allele num: 5266
num of homozygotes: 4

East Asian
type: Population
allele count: 14
allele frequency: 2.880658436213992e-2
allele num: 486
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 3.465346534653466e-2
allele num: 202
num of homozygotes: 1

South Asian
type: Population
allele count: 569
allele frequency: 7.490784623486045e-2
allele num: 7596
num of homozygotes: 27

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

QD
type: SiteQuality
SIO_000300: 1.429e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

DP
type: SiteQuality
SIO_000300: 3.26971e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

GenotypeQuality
all individuals: 626
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17609
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13326
bin: 9.75e1
variant carriers: 61

GenotypeQuality
all individuals: 664
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3449
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3120
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73973556019485e-4
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.551098376313276e-5
allele num: 10470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 53
allele frequency: 8.304606706361642e-4
allele num: 63820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.071666162685213e-4
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.334e0

DP
type: SiteQuality
SIO_000300: 2.533396e6

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 1.044e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

GenotypeQuality
all individuals: 1702
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4249
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3209
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13276
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17827
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3453
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.344047841524949e-5
allele num: 10702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63760
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.048e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.53246e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.75e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
all individuals: 328
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13277
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 322
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3468
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3120
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4247
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7576
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566808723990975e-5
allele num: 63824
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.777263469727828e-4
allele num: 10802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 7.723e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.53372e6

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13273
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 811
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7577
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3497
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17975
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.776e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.534142e6

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3455
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 1.46e0

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
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SIO_000300: 5.869e1

ClippingRankSum
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SIO_000300: 1.46e0

QD
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SIO_000300: 3.75e0

BaseQRankSum
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SIO_000300: -1.682e0

DP
type: SiteQuality
SIO_000300: 2.538015e6

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64036
num of homozygotes: 0

Latino
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allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.961e1

MQRankSum
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SIO_000300: 2.58e-1

DP
type: SiteQuality
SIO_000300: 2.541883e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.07e0

QD
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SIO_000300: 1.283e1

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

East Asian
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allele count: 2
allele frequency: 2.326122354035822e-4
allele num: 8598
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.001001001001001e-4
allele num: 9990
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.080611535788742e-4
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.246486351427322e-5
allele num: 64036
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 2.58e-1

QD
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InbreedingCoeff
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SIO_000300: 1.62e-2

BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.28e-1

ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.541883e6

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.120806416377992e-5
allele num: 64086
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

BaseQRankSum
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SIO_000300: 1.79e0

InbreedingCoeff
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SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.542209e6

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.32396002788752e-4
allele num: 8606
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64228
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.104e0

VQSLOD
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DP
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ClippingRankSum
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SIO_000300: -3.02e-1

InbreedingCoeff
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SIO_000300: -9.0e-4

MQRankSum
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ReadPosRankSum
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SIO_000300: 8.070000000000001e-1

QD
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SIO_000300: 1.372e1

BaseQRankSum
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SIO_000300: 6.96e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64390
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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ClippingRankSum
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SIO_000300: 1.35e0

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

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

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

African
type: Population
allele count: 12
allele frequency: 1.189532117367169e-3
allele num: 10088
num of homozygotes: 0

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

Latino
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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: 8626
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.088516894187411e-5
allele num: 64756
num of homozygotes: 0

Other
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ReadPosRankSum
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SIO_000300: 4.33e-1

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

East Asian
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allele count: 5
allele frequency: 5.795085767269356e-4
allele num: 8628
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.904912836767037e-5
allele num: 10096
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64848
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
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InbreedingCoeff
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SIO_000300: -7.0e-4

QD
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ReadPosRankSum
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FS
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SIO_000300: 3.268e0

BaseQRankSum
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SIO_000300: -1.344e0

VQSLOD
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SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 2.566891e6

GenotypeDepth
all individuals: 81
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64910
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.497902935889754e-4
allele num: 13352
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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VQSLOD
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

ClippingRankSum
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SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

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

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

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

South Asian
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allele frequency: 2.194907813871817e-4
allele num: 13668
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65070
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
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SIO_000300: -2.704e0

ReadPosRankSum
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SIO_000300: 9.93e-1

MQRankSum
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MQ
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SIO_000300: 6.0e1

QD
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SIO_000300: 1.082e1

InbreedingCoeff
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SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

DP
type: SiteQuality
SIO_000300: 2.574046e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.375726077652094e-4
allele num: 65420
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 2.589e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
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SIO_000300: 3.84e-1

VQSLOD
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QD
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SIO_000300: 1.014e1

BaseQRankSum
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SIO_000300: 3.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

DP
type: SiteQuality
SIO_000300: 2.586048e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2555
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526204938799182e-5
allele num: 65522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.195e0

DP
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -7.15e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

GenotypeDepth
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variant carriers: 3719

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4327

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

African
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allele count: 86
allele frequency: 8.434680266771282e-3
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3434
allele frequency: 5.228061628402655e-2
allele num: 65684
num of homozygotes: 93

Other
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allele frequency: 3.837471783295711e-2
allele num: 886
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European (Finnish)
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allele count: 605
allele frequency: 9.14726338070759e-2
allele num: 6614
num of homozygotes: 22

South Asian
type: Population
allele count: 118
allele frequency: 7.935440484196369e-3
allele num: 14870
num of homozygotes: 1

Latino
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allele count: 183
allele frequency: 1.583318913306801e-2
allele num: 11558
num of homozygotes: 1

InbreedingCoeff
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SIO_000300: 1.7e-2

BaseQRankSum
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FS
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MQRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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SIO_000300: 3.92e-1

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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European (Non-Finnish)
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allele num: 65694
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East Asian
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Other
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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FS
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QD
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SIO_000300: 1.171e1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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Latino
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South Asian
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Latino
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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BaseQRankSum
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QD
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 65994
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African
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South Asian
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Other
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East Asian
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Latino
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European (Finnish)
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

South Asian
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Other
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Latino
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East Asian
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African
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European (Non-Finnish)
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MQ
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66020
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African
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East Asian
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Other
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European (Finnish)
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Latino
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South Asian
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MQ
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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MQ
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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South Asian
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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MQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.231306081754735e-5
allele num: 16048
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.631773969430292e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.242e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 2.038884e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.236e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

GenotypeDepth
all individuals: 195
bin: 9.75e1
variant carriers: 14

GenotypeDepth
all individuals: 14768
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9978
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 939
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24204
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.296680497925311e-3
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 2.037466e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.366e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

GenotypeDepth
all individuals: 7116
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3164
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 8563
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variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9964
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

FS
type: SiteQuality
SIO_000300: 1.494e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 2.035488e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.572e0

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeDepth
all individuals: 5067
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
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variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3751
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2721
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3384
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9963
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.546143355053796e-5
allele num: 65990
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.035201e6

QD
type: SiteQuality
SIO_000300: 1.141e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 6.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 612
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23708
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variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 3369
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 8492
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variant carriers: 0

GenotypeQuality
all individuals: 9959
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.079951360389117e-5
allele num: 65790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16020
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.654e0

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

DP
type: SiteQuality
SIO_000300: 2.025032e6

GenotypeDepth
all individuals: 14717
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
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variant carriers: 1

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 181
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variant carriers: 0

GenotypeQuality
all individuals: 1574
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variant carriers: 0

GenotypeQuality
all individuals: 117
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23646
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3365
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 8483
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 8.75e1
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GenotypeQuality
all individuals: 9955
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52012647452268e-5
allele num: 65784
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 2.023968e6

FS
type: SiteQuality
SIO_000300: 6.582e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeDepth
all individuals: 1828
bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4603
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.064638783269962e-4
allele num: 65750
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.023103e6

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9944
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2720
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.061849357011635e-5
allele num: 65320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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FS
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MQ
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SIO_000300: 5.287e1

ReadPosRankSum
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SIO_000300: -2.59e-1

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.093102381688834e-5
allele num: 64660
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: 4.76e0

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

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64478
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
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allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

VQSLOD
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SIO_000300: 2.91e-1

ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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ClippingRankSum
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SIO_000300: -2.3e-1

MQ
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SIO_000300: 5.943e1

BaseQRankSum
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SIO_000300: -3.202e0

QD
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SIO_000300: 1.676e1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14734
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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SIO_000300: 2.07e-1

ReadPosRankSum
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SIO_000300: 1.39e0

BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele frequency: 4.664179104477612e-5
allele num: 64320
num of homozygotes: 0

Other
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East Asian
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South Asian
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allele num: 14538
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.559673092519808e-5
allele num: 64116
num of homozygotes: 0

Other
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African
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East Asian
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South Asian
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European (Finnish)
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num of homozygotes: 0

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

European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Other
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Latino
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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East Asian
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African
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.467e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

DP
type: SiteQuality
SIO_000300: 1.927981e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.037e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.671e0

VQSLOD
type: SiteQuality
SIO_000300: -3.009e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeDepth
all individuals: 1026
bin: 5.75e1
variant carriers: 21

GenotypeDepth
all individuals: 618
bin: 6.25e1
variant carriers: 27

GenotypeDepth
all individuals: 109
bin: 8.25e1
variant carriers: 23

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 5468
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3694
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7713
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18145
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10012
bin: 9.75e1
variant carriers: 335

GenotypeQuality
all individuals: 3237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4481
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 6.317119393556538e-4
allele num: 9498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 206
allele frequency: 3.254035952358386e-3
allele num: 63306
num of homozygotes: 2

South Asian
type: Population
allele count: 50
allele frequency: 3.764493299201927e-3
allele num: 13282
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 66
allele frequency: 1.035456542202698e-2
allele num: 6374
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.8506629448709e-4
allele num: 11464
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.21654501216545e-3
allele num: 822
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

DP
type: SiteQuality
SIO_000300: 1.91782e6

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

QD
type: SiteQuality
SIO_000300: 1.426e1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

FS
type: SiteQuality
SIO_000300: 1.651e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1