15-42693879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693879
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693879
    reference: chr 15
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1395G>A
  hgvsp: ENST00000318023.7:c.1395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1626G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1251G>A
  hgvsp: ENST00000349748.3:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1626G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1395G>A
  hgvsp: ENST00000397163.3:c.1395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1626G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1395G>A
  hgvsp: ENST00000357568.3:c.1395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1134G>A
  hgvsp: ENST00000356316.3:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1904G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu465Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

15-42693888-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693888
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693888
    reference: chr 15
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1260C>G
  hgvsp: ENSP00000183936.4:p.Asp420Glu
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1143C>G
  hgvsp: ENSP00000348667.3:p.Asp381Glu
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1635C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1913C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1635C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1404C>G
  hgvsp: ENSP00000380349.3:p.Asp468Glu
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1404C>G
  hgvsp: ENSP00000350181.3:p.Asp468Glu
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1404C>G
  hgvsp: ENSP00000326281.7:p.Asp468Glu
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1635C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp468Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

15-42693888-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693888
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693888
    reference: chr 15
allele count: 5
allele frequency: 4.121671750061825e-5
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1404C>T
  hgvsp: ENST00000357568.3:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1404C>T
  hgvsp: ENST00000318023.7:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1635C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1143C>T
  hgvsp: ENST00000356316.3:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1404C>T
  hgvsp: ENST00000397163.3:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1635C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1635C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1260C>T
  hgvsp: ENST00000349748.3:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1913C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp468Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

15-42693889-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693889
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693890
    reference: chr 15
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1406dupA
  hgvsp: ENSP00000380349.3:p.Asp469GlufsTer2
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1637dupA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1145dupA
  hgvsp: ENSP00000348667.3:p.Asp382GlufsTer2
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1406dupA
  hgvsp: ENSP00000326281.7:p.Asp469GlufsTer2
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1915dupA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1262dupA
  hgvsp: ENSP00000183936.4:p.Asp421GlufsTer2
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1637dupA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1406dupA
  hgvsp: ENSP00000350181.3:p.Asp469GlufsTer2
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1637dupA
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp469GlufsTer2
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

15-42693894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693894
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693894
    reference: chr 15
allele count: 4
allele frequency: 3.297446127973885e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1641C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1641C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1641C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1266C>T
  hgvsp: ENST00000349748.3:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1149C>T
  hgvsp: ENST00000356316.3:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1410C>T
  hgvsp: ENST00000397163.3:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1410C>T
  hgvsp: ENST00000357568.3:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1410C>T
  hgvsp: ENST00000318023.7:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1919C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp470Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

15-42693895-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693895
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693895
    reference: chr 15
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1411C>G
  hgvsp: ENSP00000380349.3:p.Pro471Ala
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1642C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1411C>G
  hgvsp: ENSP00000350181.3:p.Pro471Ala
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1267C>G
  hgvsp: ENSP00000183936.4:p.Pro423Ala
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1642C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1642C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1150C>G
  hgvsp: ENSP00000348667.3:p.Pro384Ala
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1920C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1411C>G
  hgvsp: ENSP00000326281.7:p.Pro471Ala
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43850
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro471Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

15-42693895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693895
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693895
    reference: chr 15
allele count: 3
allele frequency: 2.473247704001715e-5
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1642C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1642C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1150C>T
  hgvsp: ENSP00000348667.3:p.Pro384Ser
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1920C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1267C>T
  hgvsp: ENSP00000183936.4:p.Pro423Ser
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1411C>T
  hgvsp: ENSP00000350181.3:p.Pro471Ser
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1642C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1411C>T
  hgvsp: ENSP00000326281.7:p.Pro471Ser
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1411C>T
  hgvsp: ENSP00000380349.3:p.Pro471Ser
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro471Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

15-42693906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693906
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693906
    reference: chr 15
allele count: 7
allele frequency: 5.772529357435018e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1278G>A
  hgvsp: ENST00000349748.3:c.1278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1422G>A
  hgvsp: ENST00000318023.7:c.1422G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1422G>A
  hgvsp: ENST00000397163.3:c.1422G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1653G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1422G>A
  hgvsp: ENST00000357568.3:c.1422G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1653G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1931G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1161G>A
  hgvsp: ENST00000356316.3:c.1161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1653G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser474Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

15-42693919-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693919
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693919
    reference: chr 15
allele count: 6
allele frequency: 4.952129415648729e-5
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1435A>G
  hgvsp: ENSP00000350181.3:p.Ser479Gly
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1435A>G
  hgvsp: ENSP00000326281.7:p.Ser479Gly
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1435A>G
  hgvsp: ENSP00000380349.3:p.Ser479Gly
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1174A>G
  hgvsp: ENSP00000348667.3:p.Ser392Gly
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1944A>G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1666A>G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1666A>G
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1666A>G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1291A>G
  hgvsp: ENSP00000183936.4:p.Ser431Gly
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser479Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

15-42693921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693921
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693921
    reference: chr 15
allele count: 36
allele frequency: 2.971670078584164e-4
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1437C>T
  hgvsp: ENST00000318023.7:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1176C>T
  hgvsp: ENST00000356316.3:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1668C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1293C>T
  hgvsp: ENST00000349748.3:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1668C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1437C>T
  hgvsp: ENST00000397163.3:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1437C>T
  hgvsp: ENST00000357568.3:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1946C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1668C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24989
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser479Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

15-42693929-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693929
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693929
    reference: chr 15
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1676T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1954T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1445T>C
  hgvsp: ENSP00000326281.7:p.Val482Ala
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1676T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1445T>C
  hgvsp: ENSP00000380349.3:p.Val482Ala
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1184T>C
  hgvsp: ENSP00000348667.3:p.Val395Ala
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1445T>C
  hgvsp: ENSP00000350181.3:p.Val482Ala
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1301T>C
  hgvsp: ENSP00000183936.4:p.Val434Ala
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1676T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val482Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-42693932-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693932
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693932
    reference: chr 15
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1304C>A
  hgvsp: ENSP00000183936.4:p.Ala435Asp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1679C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1448C>A
  hgvsp: ENSP00000350181.3:p.Ala483Asp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1679C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1448C>A
  hgvsp: ENSP00000326281.7:p.Ala483Asp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1448C>A
  hgvsp: ENSP00000380349.3:p.Ala483Asp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1187C>A
  hgvsp: ENSP00000348667.3:p.Ala396Asp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1957C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1679C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala483Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/15-42693934-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693934
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693934
    reference: chr 15
allele count: 2
allele frequency: 1.655163281857755e-5
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1681C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1306C>A
  hgvsp: ENSP00000183936.4:p.Leu436Met
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1681C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1450C>A
  hgvsp: ENSP00000350181.3:p.Leu484Met
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1450C>A
  hgvsp: ENSP00000380349.3:p.Leu484Met
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1681C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1959C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1189C>A
  hgvsp: ENSP00000348667.3:p.Leu397Met
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1450C>A
  hgvsp: ENSP00000326281.7:p.Leu484Met
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu484Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

15-42693944-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693944
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693944
    reference: chr 15
allele count: 1
allele frequency: 8.346130733791815e-6
allele num: 119816
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1460A>G
  hgvsp: ENSP00000380349.3:p.Lys487Arg
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1460A>G
  hgvsp: ENSP00000350181.3:p.Lys487Arg
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1691A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1316A>G
  hgvsp: ENSP00000183936.4:p.Lys439Arg
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1691A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1199A>G
  hgvsp: ENSP00000348667.3:p.Lys400Arg
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1691A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1969A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1460A>G
  hgvsp: ENSP00000326281.7:p.Lys487Arg
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys487Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

15-42693950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693950
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693950
    reference: chr 15
allele count: 6
allele frequency: 5.03389489227465e-5
allele num: 119192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1697G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1205G>A
  hgvsp: ENSP00000348667.3:p.Arg402Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1697G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1322G>A
  hgvsp: ENSP00000183936.4:p.Arg441Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1975G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1466G>A
  hgvsp: ENSP00000380349.3:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1697G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1466G>A
  hgvsp: ENSP00000350181.3:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1466G>A
  hgvsp: ENSP00000326281.7:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg489Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

15-42693952-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693952
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693953
    reference: chr 15
allele count: 1
allele frequency: 8.498053945646446e-6
allele num: 117674
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1699_1700insT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1468_1469insT
  hgvsp: ENSP00000350181.3:p.Arg490LeufsTer87
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1977_1978insT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1207_1208insT
  hgvsp: ENSP00000348667.3:p.Arg403LeufsTer87
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1324_1325insT
  hgvsp: ENSP00000183936.4:p.Arg442LeufsTer87
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1699_1700insT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1468_1469insT
  hgvsp: ENSP00000380349.3:p.Arg490LeufsTer87
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1468_1469insT
  hgvsp: ENSP00000326281.7:p.Arg490LeufsTer87
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1699_1700insT
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5995
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg490LeufsTer87
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

15-42693952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693952
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693952
    reference: chr 15
allele count: 13
allele frequency: 1.104747012934038e-4
allele num: 117674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1699C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1977C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1699C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1468C>T
  hgvsp: ENSP00000326281.7:p.Arg490Trp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1207C>T
  hgvsp: ENSP00000348667.3:p.Arg403Trp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1468C>T
  hgvsp: ENSP00000380349.3:p.Arg490Trp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1468C>T
  hgvsp: ENSP00000350181.3:p.Arg490Trp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1699C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1324C>T
  hgvsp: ENSP00000183936.4:p.Arg442Trp
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23653
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5995
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg490Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

15-42693953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693953
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693953
    reference: chr 15
allele count: 7
allele frequency: 5.949851253718657e-5
allele num: 117650
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1469G>A
  hgvsp: ENSP00000350181.3:p.Arg490Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1469G>A
  hgvsp: ENSP00000380349.3:p.Arg490Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1700G>A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1978G>A
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1700G>A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1325G>A
  hgvsp: ENSP00000183936.4:p.Arg442Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1469G>A
  hgvsp: ENSP00000326281.7:p.Arg490Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1208G>A
  hgvsp: ENSP00000348667.3:p.Arg403Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1700G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20167
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23722
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg490Gln
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

15-42693953-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693953
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693953
    reference: chr 15
allele count: 1
allele frequency: 8.499787505312367e-6
allele num: 117650
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1325G>C
  hgvsp: ENSP00000183936.4:p.Arg442Pro
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1978G>C
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1469G>C
  hgvsp: ENSP00000380349.3:p.Arg490Pro
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1208G>C
  hgvsp: ENSP00000348667.3:p.Arg403Pro
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1700G>C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1469G>C
  hgvsp: ENSP00000326281.7:p.Arg490Pro
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1700G>C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1469G>C
  hgvsp: ENSP00000350181.3:p.Arg490Pro
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1700G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg490Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

15-42693959-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693959
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693959
    reference: chr 15
allele count: 1
allele frequency: 8.553588230262596e-6
allele num: 116910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1331A>T
  hgvsp: ENSP00000183936.4:p.Asp444Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1706A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1214A>T
  hgvsp: ENSP00000348667.3:p.Asp405Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1475A>T
  hgvsp: ENSP00000380349.3:p.Asp492Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1475A>T
  hgvsp: ENSP00000326281.7:p.Asp492Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1475A>T
  hgvsp: ENSP00000350181.3:p.Asp492Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1984A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1706A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1706A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5111
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp492Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

15-42693961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693961
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693961
    reference: chr 15
allele count: 2
allele frequency: 1.715118771974959e-5
allele num: 116610
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1477C>T
  hgvsp: ENSP00000380349.3:p.Arg493Trp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1708C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1333C>T
  hgvsp: ENSP00000183936.4:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1477C>T
  hgvsp: ENSP00000350181.3:p.Arg493Trp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1216C>T
  hgvsp: ENSP00000348667.3:p.Arg406Trp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1477C>T
  hgvsp: ENSP00000326281.7:p.Arg493Trp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1986C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1708C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1708C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg493Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

15-42693962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693962
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693962
    reference: chr 15
allele count: 3
allele frequency: 2.589644873366366e-5
allele num: 115846
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1709G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1478G>A
  hgvsp: ENSP00000380349.3:p.Arg493Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1334G>A
  hgvsp: ENSP00000183936.4:p.Arg445Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1478G>A
  hgvsp: ENSP00000326281.7:p.Arg493Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1709G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1478G>A
  hgvsp: ENSP00000350181.3:p.Arg493Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1217G>A
  hgvsp: ENSP00000348667.3:p.Arg406Gln
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1709G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1987G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19893
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg493Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

15-42693970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693970
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693970
    reference: chr 15
allele count: 1
allele frequency: 8.756260726419389e-6
allele num: 114204
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1717G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1486G>A
  hgvsp: ENSP00000326281.7:p.Gly496Arg
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1486G>A
  hgvsp: ENSP00000350181.3:p.Gly496Arg
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1342G>A
  hgvsp: ENSP00000183936.4:p.Gly448Arg
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1717G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1995G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1717G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1225G>A
  hgvsp: ENSP00000348667.3:p.Gly409Arg
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1486G>A
  hgvsp: ENSP00000380349.3:p.Gly496Arg
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly496Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

15-42693973-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693973
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693973
    reference: chr 15
allele count: 2
allele frequency: 1.766222756013989e-5
allele num: 113236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1489G>C
  hgvsp: ENSP00000350181.3:p.Ala497Pro
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1720G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1489G>C
  hgvsp: ENSP00000326281.7:p.Ala497Pro
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1720G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1228G>C
  hgvsp: ENSP00000348667.3:p.Ala410Pro
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1720G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1345G>C
  hgvsp: ENSP00000183936.4:p.Ala449Pro
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1489G>C
  hgvsp: ENSP00000380349.3:p.Ala497Pro
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1998G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala497Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

15-42693974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693974
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693974
    reference: chr 15
allele count: 1
allele frequency: 8.868550346760318e-6
allele num: 112758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1490C>T
  hgvsp: ENSP00000350181.3:p.Ala497Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1229C>T
  hgvsp: ENSP00000348667.3:p.Ala410Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1721C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1490C>T
  hgvsp: ENSP00000380349.3:p.Ala497Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1721C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.1999C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1721C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1490C>T
  hgvsp: ENSP00000326281.7:p.Ala497Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1346C>T
  hgvsp: ENSP00000183936.4:p.Ala449Val
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala497Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

15-42693975-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693975
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693975
    reference: chr 15
allele count: 1
allele frequency: 8.88494002665482e-6
allele num: 112550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1722C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1347C>T
  hgvsp: ENST00000349748.3:c.1347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1491C>T
  hgvsp: ENST00000357568.3:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1230C>T
  hgvsp: ENST00000356316.3:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1491C>T
  hgvsp: ENST00000397163.3:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1491C>T
  hgvsp: ENST00000318023.7:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1722C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2000C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1722C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala497Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

15-42693981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693981
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693981
    reference: chr 15
allele count: 1
allele frequency: 9.01648212933242e-6
allele num: 110908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1353C>T
  hgvsp: ENST00000349748.3:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1728C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1728C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1497C>T
  hgvsp: ENST00000357568.3:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1497C>T
  hgvsp: ENST00000318023.7:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1728C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1497C>T
  hgvsp: ENST00000397163.3:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1236C>T
  hgvsp: ENST00000356316.3:c.1236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2006C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu499Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

15-42693986-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693986
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693986
    reference: chr 15
allele count: 1
allele frequency: 9.288500835965075e-6
allele num: 107660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2011C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1733C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1502C>G
  hgvsp: ENSP00000350181.3:p.Thr501Ser
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1502C>G
  hgvsp: ENSP00000326281.7:p.Thr501Ser
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1733C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1502C>G
  hgvsp: ENSP00000380349.3:p.Thr501Ser
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1241C>G
  hgvsp: ENSP00000348667.3:p.Thr414Ser
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1733C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1358C>G
  hgvsp: ENSP00000183936.4:p.Thr453Ser
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11919
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr501Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

15-42693988-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693988
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693988
    reference: chr 15
allele count: 7
allele frequency: 6.534849418398402e-5
allele num: 107118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1504A>G
  hgvsp: ENSP00000326281.7:p.Ile502Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1360A>G
  hgvsp: ENSP00000183936.4:p.Ile454Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1735A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1243A>G
  hgvsp: ENSP00000348667.3:p.Ile415Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1504A>G
  hgvsp: ENSP00000350181.3:p.Ile502Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1735A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1504A>G
  hgvsp: ENSP00000380349.3:p.Ile502Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2013A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1735A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16289
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile502Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

15-42693989-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693989
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693989
    reference: chr 15
allele count: 19
allele frequency: 1.77999288002848e-4
allele num: 106742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1736T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1505T>C
  hgvsp: ENSP00000326281.7:p.Ile502Thr
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1736T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1244T>C
  hgvsp: ENSP00000348667.3:p.Ile415Thr
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1361T>C
  hgvsp: ENSP00000183936.4:p.Ile454Thr
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1505T>C
  hgvsp: ENSP00000350181.3:p.Ile502Thr
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1505T>C
  hgvsp: ENSP00000380349.3:p.Ile502Thr
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2014T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1736T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16113
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16779
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile502Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS

15-42693995-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693995
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693995
    reference: chr 15
allele count: 1
allele frequency: 9.648039518369867e-6
allele num: 103648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1511T>G
  hgvsp: ENSP00000326281.7:p.Phe504Cys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2020T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1742T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1511T>G
  hgvsp: ENSP00000380349.3:p.Phe504Cys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1511T>G
  hgvsp: ENSP00000350181.3:p.Phe504Cys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1742T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1250T>G
  hgvsp: ENSP00000348667.3:p.Phe417Cys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1367T>G
  hgvsp: ENSP00000183936.4:p.Phe456Cys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1742T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe504Cys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

15-42693998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42693998
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42693998
    reference: chr 15
allele count: 4
allele frequency: 3.942207241834703e-5
allele num: 101466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1514C>T
  hgvsp: ENSP00000326281.7:p.Ala505Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1745C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1370C>T
  hgvsp: ENSP00000183936.4:p.Ala457Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1253C>T
  hgvsp: ENSP00000348667.3:p.Ala418Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1514C>T
  hgvsp: ENSP00000350181.3:p.Ala505Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1514C>T
  hgvsp: ENSP00000380349.3:p.Ala505Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1745C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2023C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1745C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13755
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ala505Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/15-42694000-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694000
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694000
    reference: chr 15
allele count: 1
allele frequency: 9.94431185361973e-6
allele num: 100560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1372A>C
  hgvsp: ENSP00000183936.4:p.Ile458Leu
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1255A>C
  hgvsp: ENSP00000348667.3:p.Ile419Leu
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1516A>C
  hgvsp: ENSP00000350181.3:p.Ile506Leu
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1747A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1747A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1747A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2025A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1516A>C
  hgvsp: ENSP00000380349.3:p.Ile506Leu
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1516A>C
  hgvsp: ENSP00000326281.7:p.Ile506Leu
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile506Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

15-42694000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694000
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694000
    reference: chr 15
allele count: 3
allele frequency: 2.983293556085919e-5
allele num: 100560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1516A>G
  hgvsp: ENSP00000350181.3:p.Ile506Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2025A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1255A>G
  hgvsp: ENSP00000348667.3:p.Ile419Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1372A>G
  hgvsp: ENSP00000183936.4:p.Ile458Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1747A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1516A>G
  hgvsp: ENSP00000326281.7:p.Ile506Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1516A>G
  hgvsp: ENSP00000380349.3:p.Ile506Val
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1747A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1747A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile506Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

15-42694004-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694004
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694004
    reference: chr 15
allele count: 1
allele frequency: 1.01181803464465e-5
allele num: 98832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2029A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1751A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1376A>G
  hgvsp: ENSP00000183936.4:p.Tyr459Cys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1751A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1520A>G
  hgvsp: ENSP00000350181.3:p.Tyr507Cys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1259A>G
  hgvsp: ENSP00000348667.3:p.Tyr420Cys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1520A>G
  hgvsp: ENSP00000380349.3:p.Tyr507Cys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1751A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1520A>G
  hgvsp: ENSP00000326281.7:p.Tyr507Cys
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr507Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

15-42694005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694005
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694005
    reference: chr 15
allele count: 9
allele frequency: 9.164222873900293e-5
allele num: 98208
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1521C>T
  hgvsp: ENST00000397163.3:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1752C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1521C>T
  hgvsp: ENST00000318023.7:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2030C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1521C>T
  hgvsp: ENST00000357568.3:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1260C>T
  hgvsp: ENST00000356316.3:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1752C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1752C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1377C>T
  hgvsp: ENST00000349748.3:c.1377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14968
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr507Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

15-42694006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694006
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694006
    reference: chr 15
allele count: 1
allele frequency: 1.028679586882278e-5
allele num: 97212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1378G>A
  hgvsp: ENSP00000183936.4:p.Glu460Lys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1522G>A
  hgvsp: ENSP00000380349.3:p.Glu508Lys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1753G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2031G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1753G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1261G>A
  hgvsp: ENSP00000348667.3:p.Glu421Lys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1522G>A
  hgvsp: ENSP00000350181.3:p.Glu508Lys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1522G>A
  hgvsp: ENSP00000326281.7:p.Glu508Lys
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1753G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21692
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu508Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

15-42694011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694011
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694011
    reference: chr 15
allele count: 3
allele frequency: 3.158892281773191e-5
allele num: 94970
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1755+3G>A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+1G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1755+3G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1263+3G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1524+3G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2033+3G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1755+3G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1380+3G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1524+3G>A
  variant of: http://identifiers.org/hgnc/1480
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1526+1G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/15-42694015-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694015
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694015
    reference: chr 15
allele count: 1
allele frequency: 1.068581564830843e-5
allele num: 93582
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1524+7A>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1755+7A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1524+7A>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1755+7A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1380+7A>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1263+7A>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1755+7A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2033+7A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+5A>C
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1524+7A>C
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

15-42694019-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694019
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694019
    reference: chr 15
allele count: 1
allele frequency: 1.095218277002607e-5
allele num: 91306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1755+11C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1263+11C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1755+11C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2033+11C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1755+11C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1524+11C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+9C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1380+11C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1524+11C>G
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5955
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-42694035-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694035
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694035
    reference: chr 15
allele count: 1
allele frequency: 1.213798460903552e-5
allele num: 82386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1755+27C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1380+27C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1524+27C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2033+27C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1524+27C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1755+27C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1755+27C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+25C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1263+27C>G
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5152
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

15-42694043-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694043
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694043
    reference: chr 15
allele count: 1
allele frequency: 1.296815022305218e-5
allele num: 77112
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1755+35A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+33A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1380+35A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2033+35A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1755+35A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1524+35A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1755+35A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1524+35A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1263+35A>G
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/15-42694050-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694050
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694050
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 72164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1755+42C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1524+42C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+40C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1755+42C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1380+42C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2033+42C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1263+42C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1755+42C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1524+42C>A
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18912
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3691
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21723
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

15-42694058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694058
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694058
    reference: chr 15
allele count: 1
allele frequency: 1.54765221159501e-5
allele num: 64614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+48G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1755+50G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1755+50G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1380+50G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1524+50G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1263+50G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1524+50G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1755+50G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2033+50G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21419
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17773
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5343
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

15-42694273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694273
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694273
    reference: chr 15
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1756-49C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1264-49C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2034-49C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1756-49C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+263C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1525-49C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1525-49C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1756-49C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1381-49C>T
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

15-42694278-CCTCATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694278
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694272
    reference: chr 15
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1756-42_1756-37delTCATTC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1525-42_1525-37delTCATTC
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1264-42_1264-37delTCATTC
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1525-42_1525-37delTCATTC
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2034-42_2034-37delTCATTC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1756-42_1756-37delTCATTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+270_1526+275delTCATTC
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1756-42_1756-37delTCATTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1381-42_1381-37delTCATTC
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32097
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: CCTCATT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/15-42694279-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694279
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694279
    reference: chr 15
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1525-43C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1756-43C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1525-43C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1264-43C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1381-43C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1756-43C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2034-43C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1756-43C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+269C>A
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32096
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

15-42694280-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694280
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694280
    reference: chr 15
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+270T>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2034-42T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1756-42T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1525-42T>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1756-42T>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1756-42T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1525-42T>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1381-42T>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1264-42T>A
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32096
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57743
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/15-42694286-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694286
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694285
    reference: chr 15
allele count: 860
allele frequency: 7.084253187913935e-3
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1756-35delC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1525-35delC
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1381-35delC
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1525-35delC
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1756-35delC
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1756-35delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2034-35delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+277delC
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1264-35delC
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32293
  bin: 9.75e1
  variant carriers: 675
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 37
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: AC
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

15-42694290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694290
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694290
    reference: chr 15
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1756-32C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1381-32C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2034-32C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+280C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1756-32C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1525-32C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1264-32C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1756-32C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1525-32C>T
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

15-42694291-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694291
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694291
    reference: chr 15
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1756-31T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2034-31T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1381-31T>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1525-31T>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1756-31T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1264-31T>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1525-31T>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1756-31T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+281T>G
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-42694297-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694297
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694297
    reference: chr 15
allele count: 13
allele frequency: 1.070857839503122e-4
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1525-25A>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2034-25A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1756-25A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1525-25A>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1756-25A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+287A>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1756-25A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1381-25A>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1264-25A>C
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32060
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

15-42694307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694307
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694307
    reference: chr 15
allele count: 4
allele frequency: 3.295055768818887e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1525-15C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1756-15C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1264-15C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1756-15C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1525-15C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1381-15C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2034-15C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+297C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1756-15C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32057
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

15-42694333-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694333
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694333
    reference: chr 15
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1767G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1767G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1275G>C
  hgvsp: ENSP00000348667.3:p.Glu425Asp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1767G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1536G>C
  hgvsp: ENSP00000350181.3:p.Glu512Asp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2045G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1536G>C
  hgvsp: ENSP00000380349.3:p.Glu512Asp
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+323G>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1392G>C
  hgvsp: ENSP00000183936.4:p.Glu464Asp
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32055
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu512Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

15-42694349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694349
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694349
    reference: chr 15
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1767+16C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1783C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1536+16C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1536+16C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+339C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1275+16C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1783C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1392+16C>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2045+16C>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32055
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

15-42694350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694350
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694350
    reference: chr 15
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1784G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1784G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+340G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1536+17G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1392+17G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2045+17G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1767+17G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1536+17G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1275+17G>A
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32053
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

15-42694374-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694374
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694374
    reference: chr 15
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1767+41C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1536+41C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1808C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1808C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1536+41C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+364C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2045+41C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1275+41C>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1392+41C>G
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32053
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

15-42694377-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694377
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694378
    reference: chr 15
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1275+49dupG
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1767+49dupG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2045+49dupG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1536+49dupG
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1536+49dupG
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1816dupG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1816dupG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+372dupG
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1392+49dupG
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32053
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

15-42694377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694377
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694377
    reference: chr 15
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1767+44A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1536+44A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1811A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2045+44A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1536+44A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1811A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1275+44A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+367A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1392+44A>G
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32053
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

15-42694379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694379
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694379
    reference: chr 15
allele count: 4
allele frequency: 3.295761650517435e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+369G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2045+46G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1536+46G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1813G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1275+46G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1767+46G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1392+46G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1536+46G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1813G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32053
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

15-42694379-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694379
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694379
    reference: chr 15
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1536+46G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1526+369G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1275+46G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1392+46G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1767+46G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.1813G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.1813G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1536+46G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2045+46G>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32053
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
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: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-42694932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694932
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694932
    reference: chr 15
allele count: 1
allele frequency: 9.036688957166094e-6
allele num: 110660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380384
  ensembl transcript: ENST00000397200
  gene symbol: CAPN3
  hgvsc: ENST00000397200.4:c.1-60G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.2366G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1276-60G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1537-60G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1537-60G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2046-60G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1527-46G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1768-60G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.2366G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000454379
  ensembl transcript: ENST00000569827
  gene symbol: CAPN3
  hgvsc: ENST00000569827.1:c.1-60G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1393-60G>A
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-42694934-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694934
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694934
    reference: chr 15
allele count: 2
allele frequency: 1.790478236737032e-5
allele num: 111702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1537-58C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.2368C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1276-58C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.2368C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2046-58C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1768-58C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000454379
  ensembl transcript: ENST00000569827
  gene symbol: CAPN3
  hgvsc: ENST00000569827.1:c.1-58C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380384
  ensembl transcript: ENST00000397200
  gene symbol: CAPN3
  hgvsc: ENST00000397200.4:c.1-58C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1393-58C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1527-44C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1537-58C>A
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-42694935-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694935
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694935
    reference: chr 15
allele count: 1
allele frequency: 8.856611460455229e-6
allele num: 112910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.2369A>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.2369A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1768-57A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1527-43A>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2046-57A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1393-57A>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1537-57A>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1276-57A>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1537-57A>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380384
  ensembl transcript: ENST00000397200
  gene symbol: CAPN3
  hgvsc: ENST00000397200.4:c.1-57A>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000454379
  ensembl transcript: ENST00000569827
  gene symbol: CAPN3
  hgvsc: ENST00000569827.1:c.1-57A>T
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

15-42694936-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694936
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694936
    reference: chr 15
allele count: 2
allele frequency: 1.767565178965974e-5
allele num: 113150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1393-56G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1537-56G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1537-56G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1768-56G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1527-42G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000454379
  ensembl transcript: ENST00000569827
  gene symbol: CAPN3
  hgvsc: ENST00000569827.1:c.1-56G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.2370G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2046-56G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.2370G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1276-56G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380384
  ensembl transcript: ENST00000397200
  gene symbol: CAPN3
  hgvsc: ENST00000397200.4:c.1-56G>T
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10254
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

15-42694937-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694937
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694937
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 113834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1537-55G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1276-55G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1537-55G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.2371G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1527-41G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000454379
  ensembl transcript: ENST00000569827
  gene symbol: CAPN3
  hgvsc: ENST00000569827.1:c.1-55G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.2371G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380384
  ensembl transcript: ENST00000397200
  gene symbol: CAPN3
  hgvsc: ENST00000397200.4:c.1-55G>T
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1768-55G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2046-55G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1393-55G>T
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

15-42694938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694938
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694938
    reference: chr 15
allele count: 15
allele frequency: 1.365921177241932e-4
allele num: 109816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1768-54A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1537-54A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1393-54A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.2372A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380384
  ensembl transcript: ENST00000397200
  gene symbol: CAPN3
  hgvsc: ENST00000397200.4:c.1-54A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1527-40A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.2372A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000454379
  ensembl transcript: ENST00000569827
  gene symbol: CAPN3
  hgvsc: ENST00000569827.1:c.1-54A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1276-54A>G
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2046-54A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1537-54A>G
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14235
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 2.25e1
  variant carriers: 4
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/15-42694939-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694939
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694939
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 113010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2046-53C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.2373C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1276-53C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1527-39C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1537-53C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1393-53C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.2373C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000454379
  ensembl transcript: ENST00000569827
  gene symbol: CAPN3
  hgvsc: ENST00000569827.1:c.1-53C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1768-53C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380384
  ensembl transcript: ENST00000397200
  gene symbol: CAPN3
  hgvsc: ENST00000397200.4:c.1-53C>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1537-53C>A
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

15-42694944-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694944
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694944
    reference: chr 15
allele count: 80386
allele frequency: 6.927916436845009e-1
allele num: 116032
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1527-34T>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1537-48T>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1537-48T>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1276-48T>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1768-48T>C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000454379
  ensembl transcript: ENST00000569827
  gene symbol: CAPN3
  hgvsc: ENST00000569827.1:c.1-48T>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.2378T>C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380384
  ensembl transcript: ENST00000397200
  gene symbol: CAPN3
  hgvsc: ENST00000397200.4:c.1-48T>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.2378T>C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1393-48T>C
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2046-48T>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 9.75e1
  variant carriers: 4791
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 662
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 7.5e0
  variant carriers: 1194
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.25e1
  variant carriers: 2422
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 1.75e1
  variant carriers: 7365
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.75e1
  variant carriers: 4210
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 1.25e1
  variant carriers: 3734
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.75e1
  variant carriers: 1280
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 3.25e1
  variant carriers: 6864
genotype depth: GenotypeDepth
  all individuals: 12149
  bin: 2.25e1
  variant carriers: 9977
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 390
genotype depth: GenotypeDepth
  all individuals: 10796
  bin: 2.75e1
  variant carriers: 9379
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 124
genotype quality: GenotypeQuality
num of homozygotes: 28444
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

15-42694945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42694945
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 42694945
    reference: chr 15
allele count: 2
allele frequency: 1.691789744370569e-5
allele num: 118218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380384
  ensembl transcript: ENST00000397200
  gene symbol: CAPN3
  hgvsc: ENST00000397200.4:c.1-47G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000183936
  ensembl transcript: ENST00000349748
  gene symbol: CAPN3
  hgvsc: ENST00000349748.3:c.1393-47G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000549793
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000549793.1:n.1768-47G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000495723
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000495723.1:n.2379G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000483208
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000483208.1:n.2379G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258461
  ensembl transcript: ENST00000466369
  gene symbol: RP11-164J13.1
  hgvsc: ENST00000466369.1:n.2046-47G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000380349
  ensembl transcript: ENST00000397163
  gene symbol: CAPN3
  hgvsc: ENST00000397163.3:c.1537-47G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000454379
  ensembl transcript: ENST00000569827
  gene symbol: CAPN3
  hgvsc: ENST00000569827.1:c.1-47G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000348667
  ensembl transcript: ENST00000356316
  gene symbol: CAPN3
  hgvsc: ENST00000356316.3:c.1276-47G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000350181
  ensembl transcript: ENST00000357568
  gene symbol: CAPN3
  hgvsc: ENST00000357568.3:c.1537-47G>A
  variant of: http://identifiers.org/hgnc/1480
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000092529
  ensembl protein: ENSP00000326281
  ensembl transcript: ENST00000318023
  gene symbol: CAPN3
  hgvsc: ENST00000318023.7:c.1527-33G>A
  variant of: http://identifiers.org/hgnc/1480
canonical: true
consequence: non coding transcript exon
filter: PASS
num of homozygotes: 0
reference allele: G

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

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

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1416
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6026
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.003e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

FS
type: SiteQuality
SIO_000300: 2.736e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.113e0

QD
type: SiteQuality
SIO_000300: 1.653e1

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.944169e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

GenotypeQuality
all individuals: 6028
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 1.94477e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 43859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6028
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.156e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 1.94477e6

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6592
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6024
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1416
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 1.944299e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 1.867e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.359e1

MQ
type: SiteQuality
SIO_000300: 6.024e1

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6027
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997541008186643e-5
allele num: 66694
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.006e1

FS
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.032e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.944425e6

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6583
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6025
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.93e0

DP
type: SiteQuality
SIO_000300: 1.944417e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43850
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6025
bin: 9.75e1
variant carriers: 3

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 1.944417e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

QD
type: SiteQuality
SIO_000300: 9.93e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 106
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.998200359928014e-5
allele num: 66680
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.944363e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

FS
type: SiteQuality
SIO_000300: 1.153e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 1.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

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

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 43659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1646
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.502100588164687e-5
allele num: 66648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

DP
type: SiteQuality
SIO_000300: 1.942726e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 1.932e0

QD
type: SiteQuality
SIO_000300: 1.466e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
all individuals: 1644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6030
bin: 9.75e1
variant carriers: 36

East Asian
type: Population
allele count: 29
allele frequency: 3.359592215013902e-3
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.249635745507528e-4
allele num: 16472
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.165e0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

DP
type: SiteQuality
SIO_000300: 1.943639e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5997
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 564
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 5.392e0

QD
type: SiteQuality
SIO_000300: 1.027e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.521e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
SIO_000300: 1.939409e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.419e0

GenotypeQuality
all individuals: 43331
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5995
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 2.396e0

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

DP
type: SiteQuality
SIO_000300: 1.938825e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.008e0

GenotypeQuality
all individuals: 43311
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5997
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005891547432969e-5
allele num: 66536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.066e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.147e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.16e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.34e0

DP
type: SiteQuality
SIO_000300: 1.937759e6

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5994
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-5
allele num: 66080
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

FS
type: SiteQuality
SIO_000300: 3.289e0

DP
type: SiteQuality
SIO_000300: 1.921166e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.528e1

GenotypeQuality
all individuals: 6182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5992
bin: 9.75e1
variant carriers: 6

East Asian
type: Population
allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.041085059149104e-5
allele num: 65766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.946954813359528e-4
allele num: 10180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

FS
type: SiteQuality
SIO_000300: 1.153e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.910196e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-1

QD
type: SiteQuality
SIO_000300: 1.47e1

GenotypeQuality
all individuals: 506
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37788
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.213495712687958e-5
allele num: 16094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.472e1

DP
type: SiteQuality
SIO_000300: 1.885645e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 643
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37788
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.996802557953637e-4
allele num: 10008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.076956214037355e-4
allele num: 64998
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.800828381055286e-4
allele num: 11106
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.472e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 1.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.885645e6

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 490
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 156
bin: 9.25e1
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GenotypeQuality
all individuals: 562
bin: 3.25e1
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GenotypeQuality
all individuals: 1284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 477
bin: 8.25e1
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GenotypeQuality
all individuals: 5268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5990
bin: 9.75e1
variant carriers: 7

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.986019572598362e-5
allele num: 10014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.233610341643582e-5
allele num: 64980
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.651e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

DP
type: SiteQuality
SIO_000300: 1.883168e6

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.212723658051689e-5
allele num: 16096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

FS
type: SiteQuality
SIO_000300: 2.651e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.883168e6

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 585
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 470
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variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.242197253433208e-5
allele num: 16020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

DP
type: SiteQuality
SIO_000300: 1.86438e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.07e-1

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 555
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variant carriers: 0

GenotypeQuality
all individuals: 365
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 614
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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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GenotypeQuality
all individuals: 5977
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38668
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.104722282591822e-5
allele num: 64418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.859428e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

FS
type: SiteQuality
SIO_000300: 5.98e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

GenotypeQuality
all individuals: 784
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 685
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 982
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 4771
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GenotypeQuality
all individuals: 1154
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variant carriers: 0

GenotypeQuality
all individuals: 140
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variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.125586047383885e-5
allele num: 63988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15912
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.223690651003426e-4
allele num: 8172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 1.845602e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.443e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
all individuals: 6198
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 5974
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 956
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
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GenotypeQuality
all individuals: 902
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GenotypeQuality
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GenotypeQuality
all individuals: 645
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GenotypeQuality
all individuals: 1095
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variant carriers: 0

GenotypeQuality
all individuals: 148
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variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583581427757015e-5
allele num: 63148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 5.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 1.809178e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.282e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 400
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GenotypeQuality
all individuals: 914
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.193051919024204e-5
allele num: 62636
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.792529e6

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeQuality
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bin: 9.75e1
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
all individuals: 380
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603180710529691e-5
allele num: 62376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15666
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 1.783739e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 8.532e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.156e0

VQSLOD
type: SiteQuality
SIO_000300: -6.723e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

GenotypeQuality
all individuals: 1026
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
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GenotypeQuality
all individuals: 34214
bin: 6.25e1
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GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.71291538198013e-4
allele num: 5838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15652
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

QD
type: SiteQuality
SIO_000300: 1.397e1

DP
type: SiteQuality
SIO_000300: 1.778752e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.443298969072165e-5
allele num: 15520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.039e0

VQSLOD
type: SiteQuality
SIO_000300: -6.661e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.750991e6

QD
type: SiteQuality
SIO_000300: 7.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.24e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.542789845590159e-5
allele num: 15284
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2573e1

MQRankSum
type: SiteQuality
SIO_000300: -1.568e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.181e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e0

DP
type: SiteQuality
SIO_000300: 1.693777e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.128e1

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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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.586554842091469e-4
allele num: 15262
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

FS
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.683685e6

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 1.283e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

GenotypeQuality
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bin: 7.5e0
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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bin: 9.75e1
variant carriers: 19

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9184
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.10494721589733e-4
allele num: 9662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.708192281651997e-4
allele num: 59080
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

DP
type: SiteQuality
SIO_000300: 1.676302e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 1.422e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.263e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.672004270082733e-5
allele num: 14988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.473e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

FS
type: SiteQuality
SIO_000300: 9.91e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.61195e6

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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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.350348027842227e-4
allele num: 6896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.782022952455628e-5
allele num: 56116
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.149e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.569213e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6814
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.131221719457014e-4
allele num: 8840
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: 770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55620
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.246e1

DP
type: SiteQuality
SIO_000300: 1.547987e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 575
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GenotypeQuality
all individuals: 5959
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.393743257820928e-5
allele num: 55620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.547987e6

QD
type: SiteQuality
SIO_000300: 1.246e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5958
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20415
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

DP
type: SiteQuality
SIO_000300: 1.510146e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 491
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5964
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20852
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19880
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.105460977227504e-4
allele num: 54276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6616
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.50385423966363e-4
allele num: 8562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14592
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.385e1

FS
type: SiteQuality
SIO_000300: 2.444e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 1.501233e6

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
all individuals: 563
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5957
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2988
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.882312456985548e-5
allele num: 14530
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.480995e6

FS
type: SiteQuality
SIO_000300: 5.508e0

VQSLOD
type: SiteQuality
SIO_000300: -2.094e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.686e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.308e0

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 3228
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24023
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5957
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.714938850154303e-5
allele num: 52494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.283e1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

DP
type: SiteQuality
SIO_000300: 1.429537e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

FS
type: SiteQuality
SIO_000300: 1.486e0

GenotypeQuality
all individuals: 1557
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5955
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3421
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.934086337614111e-5
allele num: 51704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.001e0

QD
type: SiteQuality
SIO_000300: 1.68e1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

DP
type: SiteQuality
SIO_000300: 1.398605e6

GenotypeQuality
all individuals: 450
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11334
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27093
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.984757065735154e-5
allele num: 50384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

DP
type: SiteQuality
SIO_000300: 1.352838e6

FS
type: SiteQuality
SIO_000300: 3.617e0

QD
type: SiteQuality
SIO_000300: 1.633e1

VQSLOD
type: SiteQuality
SIO_000300: -1.462e0

MQ
type: SiteQuality
SIO_000300: 5.797e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

GenotypeQuality
all individuals: 5953
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4907
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4923
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.427213309566251e-5
allele num: 13464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5218
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.227907e6

VQSLOD
type: SiteQuality
SIO_000300: -2.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

FS
type: SiteQuality
SIO_000300: 1.9343e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

MQ
type: SiteQuality
SIO_000300: 5.986e1

QD
type: SiteQuality
SIO_000300: 1.452e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

GenotypeQuality
all individuals: 228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5893
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5349
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5063
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5950
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 623
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.669888019634913e-5
allele num: 13038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

FS
type: SiteQuality
SIO_000300: 7.26e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.044e0

DP
type: SiteQuality
SIO_000300: 1.180084e6

GenotypeQuality
all individuals: 2506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6851
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4977
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4324
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.327e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 7.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.154555e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.200754469411185e-5
allele num: 12194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3040
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.866e1

QD
type: SiteQuality
SIO_000300: 4.74e0

DP
type: SiteQuality
SIO_000300: 1.136649e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e0

VQSLOD
type: SiteQuality
SIO_000300: -1.743e0

FS
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 14
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 5.884588e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.495e0

VQSLOD
type: SiteQuality
SIO_000300: -9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 606
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GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.415e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

MQ
type: SiteQuality
SIO_000300: 5.269e1

QD
type: SiteQuality
SIO_000300: 6.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

FS
type: SiteQuality
SIO_000300: 7.053e0

DP
type: SiteQuality
SIO_000300: 5.884726e6

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 57743
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 3
allele frequency: 3.494060097833683e-4
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.759e0

QD
type: SiteQuality
SIO_000300: 1.067e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

FS
type: SiteQuality
SIO_000300: 3.671e0

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

DP
type: SiteQuality
SIO_000300: 5.884624e6

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 5
bin: 2.5e0
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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: 462
bin: 6.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 7.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

DP
type: SiteQuality
SIO_000300: 5.884767e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 822

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

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.726888333653661e-4
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
num of homozygotes: 1

South Asian
type: Population
allele count: 33
allele frequency: 1.998546511627907e-3
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.997332374186974e-4
allele num: 66726
num of homozygotes: 0

East Asian
type: Population
allele count: 786
allele frequency: 9.084604715672677e-2
allele num: 8652
num of homozygotes: 36

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 2.718e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

MQ
type: SiteQuality
SIO_000300: 6.005e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.49e-2

DP
type: SiteQuality
SIO_000300: 5.901024e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.351e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.712e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

FS
type: SiteQuality
SIO_000300: 2.503e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

DP
type: SiteQuality
SIO_000300: 5.879934e6

QD
type: SiteQuality
SIO_000300: 1.059e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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
all individuals: 7
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

South Asian
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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

MQ
type: SiteQuality
SIO_000300: 5.882e1

DP
type: SiteQuality
SIO_000300: 5.879948e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.203e0

VQSLOD
type: SiteQuality
SIO_000300: -1.353e0

FS
type: SiteQuality
SIO_000300: 8.539999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

GenotypeQuality
all individuals: 0
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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
all individuals: 6
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GenotypeQuality
all individuals: 244
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GenotypeQuality
all individuals: 57804
bin: 9.75e1
variant carriers: 13

GenotypeQuality
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GenotypeQuality
all individuals: 439
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GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.79834552211965e-4
allele num: 66728
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 3.448e0

DP
type: SiteQuality
SIO_000300: 5.880351e6

QD
type: SiteQuality
SIO_000300: 1.245e1

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

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

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
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GenotypeQuality
all individuals: 244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
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GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57804
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994664748373947e-5
allele num: 66726
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: 5.987e1

FS
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e0

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.880048e6

QD
type: SiteQuality
SIO_000300: 1.252e1

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 462
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.89e0

DP
type: SiteQuality
SIO_000300: 5.879829e6

QD
type: SiteQuality
SIO_000300: 1.456e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 6.753e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

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

GenotypeQuality
all individuals: 641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
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GenotypeQuality
all individuals: 2
bin: 7.5e0
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GenotypeQuality
all individuals: 57802
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variant carriers: 3

GenotypeQuality
all individuals: 421
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49707690001499e-5
allele num: 66710
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.913e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

DP
type: SiteQuality
SIO_000300: 5.879443e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

QD
type: SiteQuality
SIO_000300: 9.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 417
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GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.315e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.423e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 5.879315e6

QD
type: SiteQuality
SIO_000300: 1.047e1

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

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

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
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GenotypeQuality
all individuals: 57796
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 88
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GenotypeQuality
all individuals: 399
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 435
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.568e-1

DP
type: SiteQuality
SIO_000300: 5.875929e6

FS
type: SiteQuality
SIO_000300: 3.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.24e0

GenotypeQuality
all individuals: 384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
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GenotypeQuality
all individuals: 2
bin: 1.25e1
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GenotypeQuality
all individuals: 205
bin: 7.25e1
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GenotypeQuality
all individuals: 18
bin: 2.75e1
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 371
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GenotypeQuality
all individuals: 57797
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

FS
type: SiteQuality
SIO_000300: 2.891e0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.035e1

DP
type: SiteQuality
SIO_000300: 5.875608e6

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
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GenotypeQuality
all individuals: 371
bin: 6.75e1
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GenotypeQuality
all individuals: 205
bin: 7.25e1
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GenotypeQuality
all individuals: 59
bin: 3.75e1
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GenotypeQuality
all individuals: 2
bin: 1.75e1
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GenotypeQuality
all individuals: 14
bin: 5.75e1
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GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
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GenotypeQuality
all individuals: 398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57797
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.18e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.891e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

DP
type: SiteQuality
SIO_000300: 5.875608e6

QD
type: SiteQuality
SIO_000300: 1.035e1

GenotypeQuality
all individuals: 57799
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
all individuals: 436
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variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.996282304970918e-5
allele num: 66708
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.126e1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

DP
type: SiteQuality
SIO_000300: 5.875385e6

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 81
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GenotypeQuality
all individuals: 488
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GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 61
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

Other
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num of homozygotes: 0

DP
type: SiteQuality
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.98e1

VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.659585767392459e-5
allele num: 60256
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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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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Other
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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DP
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.103996467211305e-4
allele num: 9058
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.640312315464864e-5
allele num: 60964
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61768
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.149305128520478e-5
allele num: 16262
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.838e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.607e0

DP
type: SiteQuality
SIO_000300: 1.919387e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5712
num of homozygotes: 0

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

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

East Asian
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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: 3.227993156654508e-5
allele num: 61958
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 820
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QD
type: SiteQuality
SIO_000300: 6.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -3.2e-3

MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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SIO_000300: -2.049e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62318
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
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QD
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DP
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VQSLOD
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GenotypeQuality
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variant carriers: 2

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

European (Finnish)
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allele frequency: 5.880047040376323e-4
allele num: 5102
num of homozygotes: 0

East Asian
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allele num: 7960
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Other
type: Population
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num of homozygotes: 0

African
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allele frequency: 4.525910839556461e-4
allele num: 8838
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 1.001468820937375e-4
allele num: 59912
num of homozygotes: 0

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

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

Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
type: Population
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allele frequency: 0.0e0
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Latino
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allele num: 11086
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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DP
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FS
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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variant carriers: 1459

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1433
bin: 5.75e1
variant carriers: 1289

GenotypeQuality
all individuals: 722
bin: 2.75e1
variant carriers: 408

GenotypeQuality
all individuals: 1597
bin: 7.25e1
variant carriers: 1409

GenotypeQuality
all individuals: 4365
bin: 6.25e1
variant carriers: 1994

GenotypeQuality
all individuals: 200
bin: 1.25e1
variant carriers: 135

GenotypeQuality
all individuals: 1145
bin: 3.25e1
variant carriers: 741

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 97

GenotypeQuality
all individuals: 335
bin: 1.75e1
variant carriers: 264

GenotypeQuality
all individuals: 1003
bin: 2.25e1
variant carriers: 450

GenotypeQuality
all individuals: 33437
bin: 9.75e1
variant carriers: 32879

GenotypeQuality
all individuals: 1418
bin: 3.75e1
variant carriers: 1076

GenotypeQuality
all individuals: 1355
bin: 8.75e1
variant carriers: 1309

GenotypeQuality
all individuals: 1916
bin: 5.25e1
variant carriers: 1746

GenotypeQuality
all individuals: 1558
bin: 4.75e1
variant carriers: 1360

GenotypeQuality
all individuals: 2034
bin: 7.75e1
variant carriers: 1848

GenotypeQuality
all individuals: 2104
bin: 8.25e1
variant carriers: 1981

GenotypeQuality
all individuals: 1052
bin: 4.25e1
variant carriers: 876

Latino
type: Population
allele count: 6696
allele frequency: 6.04332129963899e-1
allele num: 11080
num of homozygotes: 2005

South Asian
type: Population
allele count: 11461
allele frequency: 6.988414634146342e-1
allele num: 16400
num of homozygotes: 4028

Other
type: Population
allele count: 569
allele frequency: 6.905339805825242e-1
allele num: 824
num of homozygotes: 200

European (Finnish)
type: Population
allele count: 3759
allele frequency: 6.45211122554068e-1
allele num: 5826
num of homozygotes: 1219

African
type: Population
allele count: 9210
allele frequency: 9.312436804853387e-1
allele num: 9890
num of homozygotes: 4292

European (Non-Finnish)
type: Population
allele count: 45228
allele frequency: 7.083476898981989e-1
allele num: 63850
num of homozygotes: 16010

East Asian
type: Population
allele count: 3463
allele frequency: 4.242832639059054e-1
allele num: 8162
num of homozygotes: 690

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.72e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.511e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

DP
type: SiteQuality
SIO_000300: 2.228659e6