18-5478336-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478336
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478336
    reference: chr 18
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.285A>G
  hgvsp: ENST00000581833.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.285A>G
  hgvsp: ENST00000544123.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.495A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-53978A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.285A>G
  hgvsp: ENST00000342933.3:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.285A>G
  hgvsp: ENST00000584015.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.285A>G
  hgvsp: ENST00000580308.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.285A>G
  hgvsp: ENST00000540638.2:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.285A>G
  hgvsp: ENST00000578503.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.285A>G
  hgvsp: ENST00000400111.3:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.285A>G
  hgvsp: ENST00000584651.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.288A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.285A>G
  hgvsp: ENST00000580989.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1289T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.285A>G
  hgvsp: ENST00000585142.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.283A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.285A>G
  hgvsp: ENST00000341928.2:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys95Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

18-5478339-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478339
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478339
    reference: chr 18
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.282T>C
  hgvsp: ENST00000580989.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1286A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.280T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.282T>C
  hgvsp: ENST00000585142.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.282T>C
  hgvsp: ENST00000540638.2:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.282T>C
  hgvsp: ENST00000584015.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.282T>C
  hgvsp: ENST00000544123.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.282T>C
  hgvsp: ENST00000580308.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.492T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.282T>C
  hgvsp: ENST00000584651.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.282T>C
  hgvsp: ENST00000578503.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.282T>C
  hgvsp: ENST00000342933.3:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.285T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.282T>C
  hgvsp: ENST00000341928.2:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-53981T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.282T>C
  hgvsp: ENST00000581833.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.282T>C
  hgvsp: ENST00000400111.3:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser94Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-5478348-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478348
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478348
    reference: chr 18
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.273A>T
  hgvsp: ENST00000400111.3:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.273A>T
  hgvsp: ENST00000584015.1:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.273A>T
  hgvsp: ENST00000341928.2:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.273A>T
  hgvsp: ENST00000580989.1:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.276A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.273A>T
  hgvsp: ENST00000540638.2:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.273A>T
  hgvsp: ENST00000584651.1:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.273A>T
  hgvsp: ENST00000580308.1:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.483A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-53990A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.273A>T
  hgvsp: ENST00000581833.1:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.273A>T
  hgvsp: ENST00000544123.1:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.273A>T
  hgvsp: ENST00000342933.3:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.273A>T
  hgvsp: ENST00000578503.1:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.271A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1277T>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.273A>T
  hgvsp: ENST00000585142.1:c.273A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser91Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

18-5478351-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478351
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478351
    reference: chr 18
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.480A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.268A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.270A>G
  hgvsp: ENST00000540638.2:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.270A>G
  hgvsp: ENST00000342933.3:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.270A>G
  hgvsp: ENST00000584015.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1274T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.270A>G
  hgvsp: ENST00000580989.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.270A>G
  hgvsp: ENST00000580308.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.270A>G
  hgvsp: ENST00000400111.3:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.270A>G
  hgvsp: ENST00000341928.2:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.270A>G
  hgvsp: ENST00000578503.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.270A>G
  hgvsp: ENST00000581833.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.270A>G
  hgvsp: ENST00000584651.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.270A>G
  hgvsp: ENST00000582703.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.270A>G
  hgvsp: ENST00000544123.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.270A>G
  hgvsp: ENST00000585142.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-53993A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.273A>G
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys90Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

18-5478356-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478356
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478356
    reference: chr 18
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.265C>G
  hgvsp: ENSP00000462338.1:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.265C>G
  hgvsp: ENSP00000463289.1:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.265C>G
  hgvsp: ENSP00000464020.1:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.265C>G
  hgvsp: ENSP00000464533.1:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.265C>G
  hgvsp: ENSP00000463122.1:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-53998C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.263C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.265C>G
  hgvsp: ENSP00000442091.2:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.268C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.265C>G
  hgvsp: ENSP00000464148.1:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.265C>G
  hgvsp: ENSP00000341138.3:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1269G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.265C>G
  hgvsp: ENSP00000343158.2:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.567C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.265C>G
  hgvsp: ENSP00000462692.1:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.475C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.265C>G
  hgvsp: ENSP00000461937.1:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.265C>G
  hgvsp: ENSP00000441174.1:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.265C>G
  hgvsp: ENSP00000382981.3:p.Gln89Glu
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln89Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

18-5478358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478358
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478358
    reference: chr 18
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.263C>T
  hgvsp: ENSP00000462692.1:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.263C>T
  hgvsp: ENSP00000463122.1:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.263C>T
  hgvsp: ENSP00000463289.1:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.263C>T
  hgvsp: ENSP00000464148.1:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.263C>T
  hgvsp: ENSP00000461937.1:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.263C>T
  hgvsp: ENSP00000343158.2:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.266C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.263C>T
  hgvsp: ENSP00000341138.3:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.263C>T
  hgvsp: ENSP00000464020.1:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.263C>T
  hgvsp: ENSP00000462338.1:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54000C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.263C>T
  hgvsp: ENSP00000442091.2:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.473C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.263C>T
  hgvsp: ENSP00000382981.3:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.565C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.263C>T
  hgvsp: ENSP00000441174.1:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.261C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.263C>T
  hgvsp: ENSP00000464533.1:p.Ser88Phe
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1267G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser88Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

18-5478359-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478359
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478359
    reference: chr 18
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.262T>C
  hgvsp: ENSP00000463289.1:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.262T>C
  hgvsp: ENSP00000441174.1:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.265T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.564T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.262T>C
  hgvsp: ENSP00000464533.1:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.472T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.262T>C
  hgvsp: ENSP00000464148.1:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.262T>C
  hgvsp: ENSP00000462338.1:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.262T>C
  hgvsp: ENSP00000343158.2:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.262T>C
  hgvsp: ENSP00000341138.3:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54001T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.262T>C
  hgvsp: ENSP00000442091.2:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.262T>C
  hgvsp: ENSP00000382981.3:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.262T>C
  hgvsp: ENSP00000464020.1:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.260T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.262T>C
  hgvsp: ENSP00000462692.1:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.262T>C
  hgvsp: ENSP00000463122.1:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.262T>C
  hgvsp: ENSP00000461937.1:p.Ser88Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1266A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser88Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

18-5478369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478369
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478369
    reference: chr 18
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.252C>T
  hgvsp: ENST00000582703.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.252C>T
  hgvsp: ENST00000580989.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.252C>T
  hgvsp: ENST00000400111.3:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.252C>T
  hgvsp: ENST00000342933.3:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.252C>T
  hgvsp: ENST00000544123.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54011C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.252C>T
  hgvsp: ENST00000580308.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.252C>T
  hgvsp: ENST00000578503.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.252C>T
  hgvsp: ENST00000585142.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1256G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.252C>T
  hgvsp: ENST00000540638.2:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.255C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.252C>T
  hgvsp: ENST00000584015.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.252C>T
  hgvsp: ENST00000581833.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.252C>T
  hgvsp: ENST00000341928.2:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.252C>T
  hgvsp: ENST00000584651.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.250C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.462C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.554C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp84Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

18-5478390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478390
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478390
    reference: chr 18
allele count: 6
allele frequency: 4.943153732081068e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1235G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.231C>T
  hgvsp: ENST00000544123.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.231C>T
  hgvsp: ENST00000540638.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.231C>T
  hgvsp: ENST00000584651.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.231C>T
  hgvsp: ENST00000580308.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.231C>T
  hgvsp: ENST00000582703.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.229C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.231C>T
  hgvsp: ENST00000580179.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54032C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.231C>T
  hgvsp: ENST00000581833.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.231C>T
  hgvsp: ENST00000400111.3:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.231C>T
  hgvsp: ENST00000578503.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.533C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.231C>T
  hgvsp: ENST00000585142.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.231C>T
  hgvsp: ENST00000342933.3:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.231C>T
  hgvsp: ENST00000341928.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.441C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.231C>T
  hgvsp: ENST00000584015.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.231C>T
  hgvsp: ENST00000580989.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.234C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu77Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

18-5478398-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478398
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478398
    reference: chr 18
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.223A>C
  hgvsp: ENSP00000462338.1:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.223A>C
  hgvsp: ENSP00000464020.1:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.223A>C
  hgvsp: ENSP00000462692.1:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.223A>C
  hgvsp: ENSP00000341138.3:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.289A>C
  hgvsp: ENST00000582592.1:c.289A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.433A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.223A>C
  hgvsp: ENSP00000464533.1:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.223A>C
  hgvsp: ENSP00000442091.2:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.223A>C
  hgvsp: ENSP00000461937.1:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.221A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.223A>C
  hgvsp: ENSP00000441174.1:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.223A>C
  hgvsp: ENSP00000464148.1:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.226A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.525A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.223A>C
  hgvsp: ENSP00000464336.1:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.223A>C
  hgvsp: ENSP00000343158.2:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.223A>C
  hgvsp: ENSP00000463289.1:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54040A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.223A>C
  hgvsp: ENSP00000463122.1:p.Lys75Gln
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys75Gln
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/18-5478401-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478401
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478401
    reference: chr 18
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.220G>T
  hgvsp: ENSP00000464020.1:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.220G>T
  hgvsp: ENSP00000461937.1:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.220G>T
  hgvsp: ENSP00000343158.2:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.220G>T
  hgvsp: ENSP00000463289.1:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.286G>T
  hgvsp: ENSP00000463707.1:p.Ala96Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.220G>T
  hgvsp: ENSP00000441174.1:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.220G>T
  hgvsp: ENSP00000464533.1:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.220G>T
  hgvsp: ENSP00000464148.1:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.220G>T
  hgvsp: ENSP00000462692.1:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.220G>T
  hgvsp: ENSP00000462338.1:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.220G>T
  hgvsp: ENSP00000341138.3:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.220G>T
  hgvsp: ENSP00000442091.2:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.220G>T
  hgvsp: ENSP00000382981.3:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.220G>T
  hgvsp: ENSP00000464336.1:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.220G>T
  hgvsp: ENSP00000463122.1:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.223G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.218G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1224C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54043G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.430G>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala74Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

18-5478423-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478423
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478423
    reference: chr 18
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.198A>G
  hgvsp: ENST00000584651.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.198A>G
  hgvsp: ENST00000584015.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.196A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.198A>G
  hgvsp: ENST00000578503.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.198A>G
  hgvsp: ENST00000582703.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.198A>G
  hgvsp: ENST00000585142.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.198A>G
  hgvsp: ENST00000400111.3:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.198A>G
  hgvsp: ENST00000341928.2:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.201A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.198A>G
  hgvsp: ENST00000342933.3:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.198A>G
  hgvsp: ENST00000580179.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.198A>G
  hgvsp: ENST00000540638.2:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.198A>G
  hgvsp: ENST00000544123.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.198A>G
  hgvsp: ENST00000581833.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54065A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.408A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1202T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.198A>G
  hgvsp: ENST00000580989.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.198A>G
  hgvsp: ENST00000580308.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.264A>G
  hgvsp: ENST00000582592.1:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu66Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

18-5478433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478433
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478433
    reference: chr 18
allele count: 9
allele frequency: 7.421089086051651e-5
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1192G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.398C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.254C>T
  hgvsp: ENSP00000463707.1:p.Thr85Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.188C>T
  hgvsp: ENSP00000341138.3:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54075C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.188C>T
  hgvsp: ENSP00000463289.1:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.188C>T
  hgvsp: ENSP00000442091.2:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.188C>T
  hgvsp: ENSP00000461937.1:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.490C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.188C>T
  hgvsp: ENSP00000464020.1:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.188C>T
  hgvsp: ENSP00000462692.1:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.188C>T
  hgvsp: ENSP00000343158.2:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.188C>T
  hgvsp: ENSP00000464336.1:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.188C>T
  hgvsp: ENSP00000462338.1:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.188C>T
  hgvsp: ENSP00000382981.3:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.188C>T
  hgvsp: ENSP00000464533.1:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.191C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.186C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.188C>T
  hgvsp: ENSP00000463122.1:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.188C>T
  hgvsp: ENSP00000441174.1:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr63Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

18-5478440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478440
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478440
    reference: chr 18
allele count: 46
allele frequency: 3.795191657178688e-4
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1185G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.394-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54082C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.187-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.486-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.250-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.182-3C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.184-3C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

18-5478448-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478448
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478448
    reference: chr 18
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54090G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.250-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1177C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.486-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.394-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.187-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.184-11G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.182-11G>C
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

18-5478451-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478451
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478451
    reference: chr 18
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.486-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.187-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54093T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.182-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.394-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1174A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.250-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.184-14T>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

18-5478465-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478465
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478465
    reference: chr 18
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.182-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.486-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.394-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54107A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1160T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.187-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.184-28A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.250-28A>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/18-5478466-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478466
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478466
    reference: chr 18
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.250-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1159C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.486-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.394-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.182-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.187-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.184-29G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54108G>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

18-5478468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478468
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478468
    reference: chr 18
allele count: 11
allele frequency: 9.104452905148154e-5
allele num: 120820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.187-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54110A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.182-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1157T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.486-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.250-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.184-31A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.394-31A>G
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

18-5478471-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478471
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478471
    reference: chr 18
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.250-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.486-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54113G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1154C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.182-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.187-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.394-34G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.184-34G>C
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

18-5478471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5478471
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5478471
    reference: chr 18
allele count: 2
allele frequency: 1.656781205474005e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.486-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.394-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.250-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000265316
  ensembl transcript: ENST00000577527
  gene symbol: RP11-286N3.1
  hgvsc: ENST00000577527.1:n.378-1154C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.37-54113G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000581454
  gene symbol: EPB41L3
  hgvsc: ENST00000581454.1:n.182-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.187-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.184-34G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

18-5488952-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488952
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488952
    reference: chr 18
allele count: 1
allele frequency: 9.271277582050807e-6
allele num: 107860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50668C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.95C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+48C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+48C>G
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/18-5488956-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488956
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488956
    reference: chr 18
allele count: 16
allele frequency: 1.480795927811199e-4
allele num: 108050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50664T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.91T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+44T>G
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

18-5488957-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488957
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488957
    reference: chr 18
allele count: 16
allele frequency: 1.481454047147275e-4
allele num: 108002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.90C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50663C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+43C>G
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

18-5488958-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488958
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488958
    reference: chr 18
allele count: 1
allele frequency: 9.258744884543451e-6
allele num: 108006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50662G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.89G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+42G>C
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

18-5488958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488958
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488958
    reference: chr 18
allele count: 1
allele frequency: 9.258744884543451e-6
allele num: 108006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50662G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.89G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+42G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

18-5488962-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488962
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488962
    reference: chr 18
allele count: 1
allele frequency: 9.24402373865296e-6
allele num: 108178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50658C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.85C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+38C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+38C>A
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

18-5488963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488963
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488963
    reference: chr 18
allele count: 1
allele frequency: 9.243511055239222e-6
allele num: 108184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.84G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50657G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+37G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

18-5488967-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488967
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488967
    reference: chr 18
allele count: 1
allele frequency: 9.225602893149067e-6
allele num: 108394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.80G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50653G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+33G>C
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/18-5488972-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488972
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488972
    reference: chr 18
allele count: 1
allele frequency: 9.206238146968386e-6
allele num: 108622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50648G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.75G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+28G>T
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18849
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

18-5488972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488972
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488972
    reference: chr 18
allele count: 1
allele frequency: 9.206238146968386e-6
allele num: 108622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.75G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50648G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+28G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

18-5488979-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488979
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488979
    reference: chr 18
allele count: 2
allele frequency: 1.832810982203405e-5
allele num: 109122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50641T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.68T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+21T>C
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

18-5488980-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488980
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488980
    reference: chr 18
allele count: 1
allele frequency: 9.155999926752001e-6
allele num: 109218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.67C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50640C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+20C>G
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

18-5488983-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488983
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488983
    reference: chr 18
allele count: 1
allele frequency: 9.139765290827332e-6
allele num: 109412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.64A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50637A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+17A>C
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-5488988-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5488988
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5488988
    reference: chr 18
allele count: 1
allele frequency: 9.113278046113186e-6
allele num: 109730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.393+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.485+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50632C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.59C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.249+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.183+12C>A
  variant of: http://identifiers.org/hgnc/3380
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

18-5489007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489007
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489007
    reference: chr 18
allele count: 2
allele frequency: 1.792564442691715e-5
allele num: 111572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.176G>A
  hgvsp: ENSP00000442091.2:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.176G>A
  hgvsp: ENSP00000343158.2:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.176G>A
  hgvsp: ENSP00000464533.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.176G>A
  hgvsp: ENSP00000461937.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.176G>A
  hgvsp: ENSP00000441174.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.176G>A
  hgvsp: ENSP00000464020.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.242G>A
  hgvsp: ENSP00000463707.1:p.Arg81Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.478G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.176G>A
  hgvsp: ENSP00000464336.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.176G>A
  hgvsp: ENSP00000462692.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.176G>A
  hgvsp: ENSP00000463289.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.176G>A
  hgvsp: ENSP00000341138.3:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.176G>A
  hgvsp: ENSP00000462338.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.386G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.176G>A
  hgvsp: ENSP00000382981.3:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.176G>A
  hgvsp: ENSP00000464148.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50613G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.176G>A
  hgvsp: ENSP00000463122.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.40G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg59Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

18-5489008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489008
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489008
    reference: chr 18
allele count: 2
allele frequency: 1.793335963559413e-5
allele num: 111524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.175C>T
  hgvsp: ENSP00000464020.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.477C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.175C>T
  hgvsp: ENSP00000463289.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.175C>T
  hgvsp: ENSP00000341138.3:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.385C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.175C>T
  hgvsp: ENSP00000461937.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.175C>T
  hgvsp: ENSP00000464336.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.175C>T
  hgvsp: ENSP00000442091.2:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.175C>T
  hgvsp: ENSP00000441174.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.175C>T
  hgvsp: ENSP00000463122.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.175C>T
  hgvsp: ENSP00000464148.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.175C>T
  hgvsp: ENSP00000343158.2:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.175C>T
  hgvsp: ENSP00000382981.3:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.175C>T
  hgvsp: ENSP00000464533.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.241C>T
  hgvsp: ENSP00000463707.1:p.Arg81Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.175C>T
  hgvsp: ENSP00000462338.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50612C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.175C>T
  hgvsp: ENSP00000462692.1:p.Arg59Trp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.39C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg59Trp
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/18-5489012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489012
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489012
    reference: chr 18
allele count: 1
allele frequency: 8.938627384378855e-6
allele num: 111874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.171G>T
  hgvsp: ENST00000581833.1:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.171G>T
  hgvsp: ENST00000544123.1:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.171G>T
  hgvsp: ENST00000582703.1:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50608G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.171G>T
  hgvsp: ENST00000341928.2:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.171G>T
  hgvsp: ENST00000342933.3:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.381G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.171G>T
  hgvsp: ENST00000584015.1:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.171G>T
  hgvsp: ENST00000540638.2:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.171G>T
  hgvsp: ENST00000400111.3:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.171G>T
  hgvsp: ENST00000580308.1:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.171G>T
  hgvsp: ENST00000585142.1:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.171G>T
  hgvsp: ENST00000578503.1:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.35G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.237G>T
  hgvsp: ENST00000582592.1:c.237G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.473G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.171G>T
  hgvsp: ENST00000580989.1:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.171G>T
  hgvsp: ENST00000580179.1:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.171G>T
  hgvsp: ENST00000584651.1:c.171G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro57Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

18-5489013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489013
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489013
    reference: chr 18
allele count: 1
allele frequency: 8.937988237607479e-6
allele num: 111882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.170C>T
  hgvsp: ENSP00000464533.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.170C>T
  hgvsp: ENSP00000461937.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.170C>T
  hgvsp: ENSP00000341138.3:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.170C>T
  hgvsp: ENSP00000382981.3:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.472C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.170C>T
  hgvsp: ENSP00000464020.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.170C>T
  hgvsp: ENSP00000462692.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.170C>T
  hgvsp: ENSP00000463122.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.170C>T
  hgvsp: ENSP00000464336.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.170C>T
  hgvsp: ENSP00000462338.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50607C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.34C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.170C>T
  hgvsp: ENSP00000441174.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.170C>T
  hgvsp: ENSP00000442091.2:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.170C>T
  hgvsp: ENSP00000343158.2:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.380C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.170C>T
  hgvsp: ENSP00000464148.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.236C>T
  hgvsp: ENSP00000463707.1:p.Pro79Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.170C>T
  hgvsp: ENSP00000463289.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro57Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

18-5489025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489025
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489025
    reference: chr 18
allele count: 2
allele frequency: 1.791215877337537e-5
allele num: 111656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.224C>T
  hgvsp: ENSP00000463707.1:p.Ala75Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.22C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.158C>T
  hgvsp: ENSP00000442091.2:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.158C>T
  hgvsp: ENSP00000441174.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.158C>T
  hgvsp: ENSP00000343158.2:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50595C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.158C>T
  hgvsp: ENSP00000341138.3:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.158C>T
  hgvsp: ENSP00000464020.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.158C>T
  hgvsp: ENSP00000463289.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.158C>T
  hgvsp: ENSP00000462692.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.158C>T
  hgvsp: ENSP00000462338.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.158C>T
  hgvsp: ENSP00000464533.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.158C>T
  hgvsp: ENSP00000464148.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.158C>T
  hgvsp: ENSP00000461937.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.158C>T
  hgvsp: ENSP00000382981.3:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.158C>T
  hgvsp: ENSP00000463122.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.158C>T
  hgvsp: ENSP00000464336.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.368C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.460C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala53Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

18-5489031-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489031
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489031
    reference: chr 18
allele count: 1
allele frequency: 8.983273145403258e-6
allele num: 111318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.218C>G
  hgvsp: ENSP00000463707.1:p.Ala73Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.362C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.152C>G
  hgvsp: ENSP00000461937.1:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.152C>G
  hgvsp: ENSP00000343158.2:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.152C>G
  hgvsp: ENSP00000464336.1:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.152C>G
  hgvsp: ENSP00000462692.1:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.152C>G
  hgvsp: ENSP00000464533.1:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.152C>G
  hgvsp: ENSP00000341138.3:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.152C>G
  hgvsp: ENSP00000464148.1:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.152C>G
  hgvsp: ENSP00000382981.3:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.152C>G
  hgvsp: ENSP00000463289.1:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.454C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.152C>G
  hgvsp: ENSP00000462338.1:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.152C>G
  hgvsp: ENSP00000442091.2:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.152C>G
  hgvsp: ENSP00000464020.1:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.152C>G
  hgvsp: ENSP00000441174.1:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.152C>G
  hgvsp: ENSP00000463122.1:p.Ala51Gly
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50589C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.16C>G
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala51Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

18-5489033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489033
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489033
    reference: chr 18
allele count: 1
allele frequency: 8.984080209868115e-6
allele num: 111308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.150C>T
  hgvsp: ENST00000540638.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.150C>T
  hgvsp: ENST00000580308.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.150C>T
  hgvsp: ENST00000342933.3:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.150C>T
  hgvsp: ENST00000584015.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.150C>T
  hgvsp: ENST00000578503.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.150C>T
  hgvsp: ENST00000581833.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.150C>T
  hgvsp: ENST00000580179.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.150C>T
  hgvsp: ENST00000582703.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.150C>T
  hgvsp: ENST00000341928.2:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.452C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.150C>T
  hgvsp: ENST00000400111.3:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.150C>T
  hgvsp: ENST00000544123.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.216C>T
  hgvsp: ENST00000582592.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50587C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.150C>T
  hgvsp: ENST00000585142.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.150C>T
  hgvsp: ENST00000584651.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.150C>T
  hgvsp: ENST00000580989.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.360C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.14C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala50Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

18-5489039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489039
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489039
    reference: chr 18
allele count: 4
allele frequency: 3.60626769325087e-5
allele num: 110918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.144C>T
  hgvsp: ENST00000584015.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.144C>T
  hgvsp: ENST00000400111.3:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.144C>T
  hgvsp: ENST00000585142.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.144C>T
  hgvsp: ENST00000582703.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.144C>T
  hgvsp: ENST00000581833.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.144C>T
  hgvsp: ENST00000578503.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.354C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.144C>T
  hgvsp: ENST00000540638.2:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.210C>T
  hgvsp: ENST00000582592.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.144C>T
  hgvsp: ENST00000544123.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.144C>T
  hgvsp: ENST00000580179.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.144C>T
  hgvsp: ENST00000342933.3:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.144C>T
  hgvsp: ENST00000580308.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50581C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.144C>T
  hgvsp: ENST00000584651.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.8C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.144C>T
  hgvsp: ENST00000580989.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.144C>T
  hgvsp: ENST00000341928.2:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.446C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe48Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/18-5489045-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489045
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489045
    reference: chr 18
allele count: 1
allele frequency: 9.044862518089725e-6
allele num: 110560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.138G>T
  hgvsp: ENSP00000464533.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.138G>T
  hgvsp: ENSP00000464336.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.138G>T
  hgvsp: ENSP00000463289.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.138G>T
  hgvsp: ENSP00000462338.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.138G>T
  hgvsp: ENSP00000343158.2:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.138G>T
  hgvsp: ENSP00000462692.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.138G>T
  hgvsp: ENSP00000382981.3:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.138G>T
  hgvsp: ENSP00000341138.3:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.138G>T
  hgvsp: ENSP00000464020.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50575G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.138G>T
  hgvsp: ENSP00000464148.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.138G>T
  hgvsp: ENSP00000442091.2:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.138G>T
  hgvsp: ENSP00000461937.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.204G>T
  hgvsp: ENSP00000463707.1:p.Glu68Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000580866
  gene symbol: EPB41L3
  hgvsc: ENST00000580866.1:n.2G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.138G>T
  hgvsp: ENSP00000441174.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.348G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.138G>T
  hgvsp: ENSP00000463122.1:p.Glu46Asp
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.440G>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu46Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

18-5489050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489050
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489050
    reference: chr 18
allele count: 1
allele frequency: 9.058463322282008e-6
allele num: 110394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.133C>T
  hgvsp: ENST00000585142.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.133C>T
  hgvsp: ENST00000578503.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.133C>T
  hgvsp: ENST00000580308.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.199C>T
  hgvsp: ENST00000582592.1:c.199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.133C>T
  hgvsp: ENST00000581833.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.133C>T
  hgvsp: ENST00000540638.2:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.133C>T
  hgvsp: ENST00000341928.2:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.133C>T
  hgvsp: ENST00000582703.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.133C>T
  hgvsp: ENST00000342933.3:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.133C>T
  hgvsp: ENST00000584015.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.133C>T
  hgvsp: ENST00000400111.3:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.133C>T
  hgvsp: ENST00000580989.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.133C>T
  hgvsp: ENST00000580179.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.343C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.133C>T
  hgvsp: ENST00000584651.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.435C>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.133C>T
  hgvsp: ENST00000544123.1:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50570C>T
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu45Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

18-5489054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489054
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489054
    reference: chr 18
allele count: 3
allele frequency: 2.724548179093634e-5
allele num: 110110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.129G>A
  hgvsp: ENST00000580989.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.129G>A
  hgvsp: ENST00000580179.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.129G>A
  hgvsp: ENST00000540638.2:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.129G>A
  hgvsp: ENST00000582703.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50566G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.129G>A
  hgvsp: ENST00000544123.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.339G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.129G>A
  hgvsp: ENST00000584015.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.129G>A
  hgvsp: ENST00000341928.2:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.129G>A
  hgvsp: ENST00000580308.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.129G>A
  hgvsp: ENST00000584651.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.129G>A
  hgvsp: ENST00000400111.3:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.129G>A
  hgvsp: ENST00000578503.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.129G>A
  hgvsp: ENST00000585142.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.129G>A
  hgvsp: ENST00000581833.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.129G>A
  hgvsp: ENST00000342933.3:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.431G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.195G>A
  hgvsp: ENST00000582592.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln43Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

18-5489058-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489058
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489058
    reference: chr 18
allele count: 1
allele frequency: 9.081992225814654e-6
allele num: 110108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.125A>T
  hgvsp: ENSP00000382981.3:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.125A>T
  hgvsp: ENSP00000462692.1:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.191A>T
  hgvsp: ENSP00000463707.1:p.Gln64Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.125A>T
  hgvsp: ENSP00000464533.1:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.125A>T
  hgvsp: ENSP00000441174.1:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.125A>T
  hgvsp: ENSP00000464336.1:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.125A>T
  hgvsp: ENSP00000463289.1:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.125A>T
  hgvsp: ENSP00000442091.2:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.125A>T
  hgvsp: ENSP00000341138.3:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.125A>T
  hgvsp: ENSP00000464020.1:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.335A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.125A>T
  hgvsp: ENSP00000461937.1:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.125A>T
  hgvsp: ENSP00000464148.1:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.125A>T
  hgvsp: ENSP00000462338.1:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.125A>T
  hgvsp: ENSP00000343158.2:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50562A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.427A>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.125A>T
  hgvsp: ENSP00000463122.1:p.Gln42Leu
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln42Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

18-5489058-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489058
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489058
    reference: chr 18
allele count: 1
allele frequency: 9.081992225814654e-6
allele num: 110108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.335A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.125A>C
  hgvsp: ENSP00000462338.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.125A>C
  hgvsp: ENSP00000464336.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.191A>C
  hgvsp: ENSP00000463707.1:p.Gln64Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.125A>C
  hgvsp: ENSP00000343158.2:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.125A>C
  hgvsp: ENSP00000461937.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50562A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.125A>C
  hgvsp: ENSP00000341138.3:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.125A>C
  hgvsp: ENSP00000442091.2:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.427A>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.125A>C
  hgvsp: ENSP00000462692.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.125A>C
  hgvsp: ENSP00000463122.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.125A>C
  hgvsp: ENSP00000382981.3:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.125A>C
  hgvsp: ENSP00000464020.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.125A>C
  hgvsp: ENSP00000464533.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.125A>C
  hgvsp: ENSP00000441174.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.125A>C
  hgvsp: ENSP00000463289.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.125A>C
  hgvsp: ENSP00000464148.1:p.Gln42Pro
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln42Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

18-5489066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489066
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489066
    reference: chr 18
allele count: 3
allele frequency: 2.748914178899335e-5
allele num: 109134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.117G>A
  hgvsp: ENST00000582703.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.117G>A
  hgvsp: ENST00000584015.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.183G>A
  hgvsp: ENST00000582592.1:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.117G>A
  hgvsp: ENST00000580308.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.117G>A
  hgvsp: ENST00000544123.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.117G>A
  hgvsp: ENST00000585142.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.117G>A
  hgvsp: ENST00000341928.2:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.117G>A
  hgvsp: ENST00000342933.3:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.117G>A
  hgvsp: ENST00000584651.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.117G>A
  hgvsp: ENST00000578503.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.117G>A
  hgvsp: ENST00000540638.2:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.117G>A
  hgvsp: ENST00000580989.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.327G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.419G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.117G>A
  hgvsp: ENST00000580179.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50554G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.117G>A
  hgvsp: ENST00000581833.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.117G>A
  hgvsp: ENST00000400111.3:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu39Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-5489069-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489069
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489069
    reference: chr 18
allele count: 7
allele frequency: 6.461260130332847e-5
allele num: 108338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.114G>C
  hgvsp: ENSP00000341138.3:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.114G>C
  hgvsp: ENSP00000343158.2:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.114G>C
  hgvsp: ENSP00000464533.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.114G>C
  hgvsp: ENSP00000464020.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.114G>C
  hgvsp: ENSP00000442091.2:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.114G>C
  hgvsp: ENSP00000463122.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.180G>C
  hgvsp: ENSP00000463707.1:p.Lys60Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.114G>C
  hgvsp: ENSP00000461937.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.114G>C
  hgvsp: ENSP00000441174.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.114G>C
  hgvsp: ENSP00000463289.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.114G>C
  hgvsp: ENSP00000464148.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.324G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.114G>C
  hgvsp: ENSP00000462692.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.114G>C
  hgvsp: ENSP00000382981.3:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.416G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50551G>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.114G>C
  hgvsp: ENSP00000462338.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.114G>C
  hgvsp: ENSP00000464336.1:p.Lys38Asn
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Lys38Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

18-5489070-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489070
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489070
    reference: chr 18
allele count: 2
allele frequency: 1.845358922310389e-5
allele num: 108380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.113A>G
  hgvsp: ENSP00000343158.2:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.113A>G
  hgvsp: ENSP00000464020.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.113A>G
  hgvsp: ENSP00000464336.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.113A>G
  hgvsp: ENSP00000442091.2:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.113A>G
  hgvsp: ENSP00000462692.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50550A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.113A>G
  hgvsp: ENSP00000464533.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.113A>G
  hgvsp: ENSP00000462338.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.113A>G
  hgvsp: ENSP00000341138.3:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.113A>G
  hgvsp: ENSP00000463289.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.113A>G
  hgvsp: ENSP00000382981.3:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.179A>G
  hgvsp: ENSP00000463707.1:p.Lys60Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.113A>G
  hgvsp: ENSP00000461937.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.415A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.323A>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.113A>G
  hgvsp: ENSP00000463122.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.113A>G
  hgvsp: ENSP00000464148.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.113A>G
  hgvsp: ENSP00000441174.1:p.Lys38Arg
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys38Arg
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

18-5489071-TGGGCGGCTCCGGCAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489071
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489056
    reference: chr 18
allele count: 2
allele frequency: 1.849967625566553e-5
allele num: 108110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsp: ENSP00000463122.1:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsp: ENSP00000462338.1:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsp: ENSP00000441174.1:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsp: ENSP00000464336.1:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsp: ENSP00000463707.1:p.Val55_Pro59del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsp: ENSP00000442091.2:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsp: ENSP00000341138.3:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsp: ENSP00000462692.1:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsp: ENSP00000382981.3:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsp: ENSP00000461937.1:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsp: ENSP00000464148.1:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsp: ENSP00000343158.2:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsp: ENSP00000464020.1:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsp: ENSP00000464533.1:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsp: ENSP00000463289.1:p.Val33_Pro37del
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val33_Pro37del
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: TGGGCGGCTCCGGCAC
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

18-5489074-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489074
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489074
    reference: chr 18
allele count: 1
allele frequency: 9.400086480795623e-6
allele num: 106382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.109C>G
  hgvsp: ENSP00000463122.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.175C>G
  hgvsp: ENSP00000463707.1:p.Pro59Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.109C>G
  hgvsp: ENSP00000464336.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.109C>G
  hgvsp: ENSP00000464020.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.109C>G
  hgvsp: ENSP00000442091.2:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.109C>G
  hgvsp: ENSP00000462338.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.109C>G
  hgvsp: ENSP00000441174.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.109C>G
  hgvsp: ENSP00000464533.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.109C>G
  hgvsp: ENSP00000463289.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.109C>G
  hgvsp: ENSP00000464148.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.109C>G
  hgvsp: ENSP00000341138.3:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.109C>G
  hgvsp: ENSP00000462692.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.411C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.109C>G
  hgvsp: ENSP00000343158.2:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.319C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50546C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.109C>G
  hgvsp: ENSP00000461937.1:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.109C>G
  hgvsp: ENSP00000382981.3:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro37Ala
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: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

18-5489076-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489076
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489076
    reference: chr 18
allele count: 331
allele frequency: 3.106114635336511e-3
allele num: 106564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.107C>A
  hgvsp: ENSP00000462692.1:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.107C>A
  hgvsp: ENSP00000464148.1:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.107C>A
  hgvsp: ENSP00000343158.2:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.107C>A
  hgvsp: ENSP00000464020.1:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.107C>A
  hgvsp: ENSP00000463289.1:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.107C>A
  hgvsp: ENSP00000382981.3:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.107C>A
  hgvsp: ENSP00000464336.1:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.107C>A
  hgvsp: ENSP00000463122.1:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.107C>A
  hgvsp: ENSP00000461937.1:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.107C>A
  hgvsp: ENSP00000341138.3:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.107C>A
  hgvsp: ENSP00000442091.2:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.107C>A
  hgvsp: ENSP00000464533.1:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.317C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.107C>A
  hgvsp: ENSP00000441174.1:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.107C>A
  hgvsp: ENSP00000462338.1:p.Pro36Gln
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.409C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50544C>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.173C>A
  hgvsp: ENSP00000463707.1:p.Pro58Gln
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 7.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
hgvs: p.Pro36Gln
num of homozygotes: 6
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/18-5489084-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489084
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489084
    reference: chr 18
allele count: 4
allele frequency: 3.831344227122086e-5
allele num: 104402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.99G>T
  hgvsp: ENST00000342933.3:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.165G>T
  hgvsp: ENST00000582592.1:c.165G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.401G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.99G>T
  hgvsp: ENST00000341928.2:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.99G>T
  hgvsp: ENST00000585142.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.99G>T
  hgvsp: ENST00000540638.2:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.99G>T
  hgvsp: ENST00000584015.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50536G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.99G>T
  hgvsp: ENST00000581833.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.309G>T
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.99G>T
  hgvsp: ENST00000578503.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.99G>T
  hgvsp: ENST00000580179.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.99G>T
  hgvsp: ENST00000580308.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.99G>T
  hgvsp: ENST00000582703.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.99G>T
  hgvsp: ENST00000584651.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.99G>T
  hgvsp: ENST00000544123.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.99G>T
  hgvsp: ENST00000400111.3:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.99G>T
  hgvsp: ENST00000580989.1:c.99G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val33Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

18-5489085-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489085
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489085
    reference: chr 18
allele count: 1
allele frequency: 9.424360085950164e-6
allele num: 106108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.98T>C
  hgvsp: ENSP00000382981.3:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.98T>C
  hgvsp: ENSP00000343158.2:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.164T>C
  hgvsp: ENSP00000463707.1:p.Val55Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.98T>C
  hgvsp: ENSP00000463289.1:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.308T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.98T>C
  hgvsp: ENSP00000464336.1:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.98T>C
  hgvsp: ENSP00000442091.2:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.98T>C
  hgvsp: ENSP00000464533.1:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.98T>C
  hgvsp: ENSP00000341138.3:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.98T>C
  hgvsp: ENSP00000464020.1:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.98T>C
  hgvsp: ENSP00000462338.1:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.98T>C
  hgvsp: ENSP00000461937.1:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.98T>C
  hgvsp: ENSP00000441174.1:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.400T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50535T>C
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.98T>C
  hgvsp: ENSP00000463122.1:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.98T>C
  hgvsp: ENSP00000464148.1:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.98T>C
  hgvsp: ENSP00000462692.1:p.Val33Ala
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val33Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

18-5489087-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489087
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489087
    reference: chr 18
allele count: 3
allele frequency: 2.842847395951785e-5
allele num: 105528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.306C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.96C>G
  hgvsp: ENST00000580989.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.96C>G
  hgvsp: ENST00000544123.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.96C>G
  hgvsp: ENST00000584651.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.96C>G
  hgvsp: ENST00000400111.3:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50533C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.96C>G
  hgvsp: ENST00000580308.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.96C>G
  hgvsp: ENST00000581833.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.96C>G
  hgvsp: ENST00000585142.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.96C>G
  hgvsp: ENST00000580179.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.96C>G
  hgvsp: ENST00000341928.2:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.96C>G
  hgvsp: ENST00000540638.2:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.162C>G
  hgvsp: ENST00000582592.1:c.162C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.96C>G
  hgvsp: ENST00000342933.3:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.96C>G
  hgvsp: ENST00000584015.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.398C>G
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.96C>G
  hgvsp: ENST00000582703.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.96C>G
  hgvsp: ENST00000578503.1:c.96C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro32Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

18-5489088-GGCGCCCCCGCGCGCCCCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489088
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489070
    reference: chr 18
allele count: 14
allele frequency: 1.321477789734005e-4
allele num: 105942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsp: ENSP00000464336.1:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsp: ENSP00000442091.2:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsp: ENSP00000382981.3:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsp: ENSP00000341138.3:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsp: ENSP00000463707.1:p.Gln48_Ala53del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsp: ENSP00000464533.1:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsp: ENSP00000461937.1:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsp: ENSP00000343158.2:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsp: ENSP00000462692.1:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsp: ENSP00000441174.1:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsp: ENSP00000463289.1:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsp: ENSP00000464148.1:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsp: ENSP00000464020.1:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsp: ENSP00000463122.1:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsp: ENSP00000462338.1:p.Gln26_Ala31del
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gln26_Ala31del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: GGCGCCCCCGCGCGCCCCT
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

18-5489091-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489091
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489090
    reference: chr 18
allele count: 1
allele frequency: 9.484786402610213e-6
allele num: 105432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.91delG
  hgvsp: ENSP00000441174.1:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.301delG
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.91delG
  hgvsp: ENSP00000464533.1:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.91delG
  hgvsp: ENSP00000462692.1:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.91delG
  hgvsp: ENSP00000464020.1:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.393delG
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.91delG
  hgvsp: ENSP00000461937.1:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.91delG
  hgvsp: ENSP00000382981.3:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.157delG
  hgvsp: ENSP00000463707.1:p.Ala53ArgfsTer?
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50528delG
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.91delG
  hgvsp: ENSP00000343158.2:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.91delG
  hgvsp: ENSP00000341138.3:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.91delG
  hgvsp: ENSP00000442091.2:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.91delG
  hgvsp: ENSP00000462338.1:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.91delG
  hgvsp: ENSP00000463289.1:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.91delG
  hgvsp: ENSP00000464148.1:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.91delG
  hgvsp: ENSP00000464336.1:p.Ala31ArgfsTer?
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.91delG
  hgvsp: ENSP00000463122.1:p.Ala31ArgfsTer52
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala31ArgfsTer52
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: GC
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-5489092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489092
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489092
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 106108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.91G>A
  hgvsp: ENSP00000441174.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.91G>A
  hgvsp: ENSP00000464148.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.91G>A
  hgvsp: ENSP00000463122.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.91G>A
  hgvsp: ENSP00000382981.3:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.91G>A
  hgvsp: ENSP00000463289.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.91G>A
  hgvsp: ENSP00000461937.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.91G>A
  hgvsp: ENSP00000343158.2:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.91G>A
  hgvsp: ENSP00000341138.3:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.91G>A
  hgvsp: ENSP00000442091.2:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.91G>A
  hgvsp: ENSP00000464533.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.301G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.91G>A
  hgvsp: ENSP00000464020.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.91G>A
  hgvsp: ENSP00000462338.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.393G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.91G>A
  hgvsp: ENSP00000462692.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.157G>A
  hgvsp: ENSP00000463707.1:p.Ala53Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.91G>A
  hgvsp: ENSP00000464336.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50528G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala31Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

18-5489093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5489093
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 5489093
    reference: chr 18
allele count: 1
allele frequency: 9.375234380859521e-6
allele num: 106664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000442091
  ensembl transcript: ENST00000540638
  gene symbol: EPB41L3
  hgvsc: ENST00000540638.2:c.90G>A
  hgvsp: ENST00000540638.2:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000341138
  ensembl transcript: ENST00000342933
  gene symbol: EPB41L3
  hgvsc: ENST00000342933.3:c.90G>A
  hgvsp: ENST00000342933.3:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463122
  ensembl transcript: ENST00000580989
  gene symbol: EPB41L3
  hgvsc: ENST00000580989.1:c.90G>A
  hgvsp: ENST00000580989.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462692
  ensembl transcript: ENST00000584651
  gene symbol: EPB41L3
  hgvsc: ENST00000584651.1:c.90G>A
  hgvsp: ENST00000584651.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000461937
  ensembl transcript: ENST00000581833
  gene symbol: EPB41L3
  hgvsc: ENST00000581833.1:c.90G>A
  hgvsp: ENST00000581833.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463707
  ensembl transcript: ENST00000582592
  gene symbol: EPB41L3
  hgvsc: ENST00000582592.1:c.156G>A
  hgvsp: ENST00000582592.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464020
  ensembl transcript: ENST00000580308
  gene symbol: EPB41L3
  hgvsc: ENST00000580308.1:c.90G>A
  hgvsp: ENST00000580308.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000441174
  ensembl transcript: ENST00000544123
  gene symbol: EPB41L3
  hgvsc: ENST00000544123.1:c.90G>A
  hgvsp: ENST00000544123.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000343158
  ensembl transcript: ENST00000341928
  gene symbol: EPB41L3
  hgvsc: ENST00000341928.2:c.90G>A
  hgvsp: ENST00000341928.2:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000382981
  ensembl transcript: ENST00000400111
  gene symbol: EPB41L3
  hgvsc: ENST00000400111.3:c.90G>A
  hgvsp: ENST00000400111.3:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464148
  ensembl transcript: ENST00000584015
  gene symbol: EPB41L3
  hgvsc: ENST00000584015.1:c.90G>A
  hgvsp: ENST00000584015.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462338
  ensembl transcript: ENST00000582703
  gene symbol: EPB41L3
  hgvsc: ENST00000582703.1:c.90G>A
  hgvsp: ENST00000582703.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000545076
  gene symbol: EPB41L3
  hgvsc: ENST00000545076.1:n.300G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000463289
  ensembl transcript: ENST00000585142
  gene symbol: EPB41L3
  hgvsc: ENST00000585142.1:c.90G>A
  hgvsp: ENST00000585142.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464336
  ensembl transcript: ENST00000580179
  gene symbol: EPB41L3
  hgvsc: ENST00000580179.1:c.90G>A
  hgvsp: ENST00000580179.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000464533
  ensembl transcript: ENST00000578503
  gene symbol: EPB41L3
  hgvsc: ENST00000578503.1:c.90G>A
  hgvsp: ENST00000578503.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000082397
  ensembl transcript: ENST00000578431
  gene symbol: EPB41L3
  hgvsc: ENST00000578431.1:n.392G>A
  variant of: http://identifiers.org/hgnc/3380
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082397
  ensembl protein: ENSP00000462783
  ensembl transcript: ENST00000584670
  gene symbol: EPB41L3
  hgvsc: ENST00000584670.1:c.36+50527G>A
  variant of: http://identifiers.org/hgnc/3380
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly30Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

GenotypeDepth
all individuals: 14143
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12107
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1792
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1149
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6158
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 838
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24541
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5182
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11033
bin: 9.75e1
variant carriers: 2

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: 11574
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: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
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: 66728
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.272e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

DP
type: SiteQuality
SIO_000300: 2.003714e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.529e1

GenotypeDepth
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14135
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1792
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeDepth
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DP
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MQ
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VQSLOD
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ClippingRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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InbreedingCoeff
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FS
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DP
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African
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European (Finnish)
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East Asian
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GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11030
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5182
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24525
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 3426
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
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: 8652
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 2.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

DP
type: SiteQuality
SIO_000300: 2.003777e6

QD
type: SiteQuality
SIO_000300: 1.54e1

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

GenotypeDepth
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6156
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 546
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12107
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14126
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17841
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 839
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1793
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1148
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3284
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3424
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24522
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11031
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7782
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 6612
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: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 9.991e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 1.39e1

DP
type: SiteQuality
SIO_000300: 2.003822e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: -4.476e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 14115
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 689
bin: 6.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 839
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3285
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17847
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6153
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1794
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12101
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 483
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4098
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1834
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11032
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 7783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24530
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
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: 908
num of homozygotes: 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: 6612
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: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.763e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 2.0039e6

QD
type: SiteQuality
SIO_000300: 1.22e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000082397
ensembl protein: ENSP00000382981
ensembl transcript: ENST00000400111
gene symbol: EPB41L3
hgvsc: ENST00000400111.3:c.223A>C
hgvsp: ENSP00000382981.3:p.Lys75Gln
variant of: http://identifiers.org/hgnc/3380

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000265316
ensembl transcript: ENST00000577527
gene symbol: RP11-286N3.1
hgvsc: ENST00000577527.1:n.378-1227T>G

GenotypeDepth
all individuals: 547
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14117
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1791
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 559
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6152
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12094
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3282
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 839
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17857
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 484
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7785
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11026
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5177
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
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: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

DP
type: SiteQuality
SIO_000300: 2.00344e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000082397
ensembl transcript: ENST00000578431
gene symbol: EPB41L3
hgvsc: ENST00000578431.1:n.522G>T
variant of: http://identifiers.org/hgnc/3380

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

GenotypeDepth
all individuals: 14111
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6153
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12096
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3281
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17849
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 839
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1791
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3414
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7776
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5177
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11025
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4098
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24516
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.003254e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.354e0

QD
type: SiteQuality
SIO_000300: 1.325e1

MQRankSum
type: SiteQuality
SIO_000300: -4.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.373e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000082397
ensembl transcript: ENST00000578431
gene symbol: EPB41L3
hgvsc: ENST00000578431.1:n.500A>G
variant of: http://identifiers.org/hgnc/3380

GenotypeDepth
all individuals: 547
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 482
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1791
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12078
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14071
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6152
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17830
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7764
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11023
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
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: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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

VQSLOD
type: SiteQuality
SIO_000300: -2.751e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

FS
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 2.002061e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000082397
ensembl protein: ENSP00000464148
ensembl transcript: ENST00000584015
gene symbol: EPB41L3
hgvsc: ENST00000584015.1:c.188C>T
hgvsp: ENSP00000464148.1:p.Thr63Ile
variant of: http://identifiers.org/hgnc/3380

GenotypeDepth
all individuals: 3279
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1791
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6149
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12073
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 688
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13970
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 17782
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 11028
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4088
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24340
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
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: 6612
num of homozygotes: 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: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.040221914008322e-3
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.49e0

DP
type: SiteQuality
SIO_000300: 2.000598e6

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000082397
ensembl protein: ENSP00000341138
ensembl transcript: ENST00000342933
gene symbol: EPB41L3
hgvsc: ENST00000342933.3:c.184-3C>T
variant of: http://identifiers.org/hgnc/3380

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000082397
ensembl protein: ENSP00000461937
ensembl transcript: ENST00000581833
gene symbol: EPB41L3
hgvsc: ENST00000581833.1:c.184-3C>T
variant of: http://identifiers.org/hgnc/3380

GenotypeDepth
all individuals: 17752
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12060
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1789
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6146
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13876
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 332
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1144
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 8.75e1
variant carriers: 3

GenotypeDepth
all individuals: 562
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 395
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3279
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 479
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 9.75e1
variant carriers: 19

GenotypeDepth
all individuals: 690
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 254
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24243
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7704
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11035
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 5145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.594258042199931e-4
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

African
type: Population
allele count: 43
allele frequency: 4.152182309772112e-3
allele num: 10356
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e0

DP
type: SiteQuality
SIO_000300: 2.000435e6

QD
type: SiteQuality
SIO_000300: 1.342e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

GenotypeDepth
all individuals: 473
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1796
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3275
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 690
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17640
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1146
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6159
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12052
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 837
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13655
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 546
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4080
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7646
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11009
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23908
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1825
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
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: 10318
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.149e1

DP
type: SiteQuality
SIO_000300: 1.994724e6

VQSLOD
type: SiteQuality
SIO_000300: -1.254e0

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.893e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 1.175e0

MQ
type: SiteQuality
SIO_000300: 5.623e1

GenotypeDepth
all individuals: 1148
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 690
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3273
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12027
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 837
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6144
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1795
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17626
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 546
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4080
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11007
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5135
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1825
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

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

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

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

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

MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.963e1

FS
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InbreedingCoeff
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DP
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SIO_000300: 1.954318e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 60892
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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QD
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-3

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.921259842519685e-5
allele num: 60960
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

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

South Asian
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allele count: 12
allele frequency: 1.032524522457408e-3
allele num: 11622
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.87941751021133e-5
allele num: 11262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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SIO_000300: 5.945e1

ClippingRankSum
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SIO_000300: -3.61e-1

InbreedingCoeff
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SIO_000300: -2.0e-3

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 18

Latino
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allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 1.033235749956949e-3
allele num: 11614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.922713399625874e-5
allele num: 60942
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 60954
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 60954
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European (Finnish)
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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

QD
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -2.78e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 9.317927692881103e-5
allele num: 10732
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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DP
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FS
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MQ
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 43

GenotypeDepth
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GenotypeDepth
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variant carriers: 9

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 312

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

Latino
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allele count: 17
allele frequency: 1.580807141528733e-3
allele num: 10754
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.575328354365182e-4
allele num: 15532
num of homozygotes: 0

African
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allele count: 302
allele frequency: 3.961175236096538e-2
allele num: 7624
num of homozygotes: 6

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.385089511409675e-4
allele num: 57758
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -2.2e-1

InbreedingCoeff
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SIO_000300: 1.25e-2

FS
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BaseQRankSum
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: 6.15e-1

MQRankSum
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DP
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SIO_000300: 1.414208e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 56440
num of homozygotes: 0

European (Finnish)
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East Asian
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Latino
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allele frequency: 1.89753320683112e-4
allele num: 10540
num of homozygotes: 0

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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Other
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 2.313e0

DP
type: SiteQuality
SIO_000300: 1.40579e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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African
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Other
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Latino
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: 4.56e-1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 5.225e0

MQ
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SIO_000300: 5.437e1

MQRankSum
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SIO_000300: -2.332e0

DP
type: SiteQuality
SIO_000300: 1.40644e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 57016
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
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SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.408252e6

MQRankSum
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SIO_000300: -1.35e0

FS
type: SiteQuality
SIO_000300: 4.022e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

QD
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SIO_000300: 1.69e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7904
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

BaseQRankSum
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SIO_000300: 7.31e-1

InbreedingCoeff
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FS
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DP
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MQRankSum
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ReadPosRankSum
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SIO_000300: 7.31e-1

VQSLOD
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MQ
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SIO_000300: 5.679e1

QD
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SIO_000300: 1.37e0

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

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

South Asian
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num of homozygotes: 0

Other
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African
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allele count: 0
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num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.981e0

MQ
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VQSLOD
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QD
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MQRankSum
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DP
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ClippingRankSum
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