http://identifiers.org/exac.variant/11-721230-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721230
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721230
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 12012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.748+24C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.700+24C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.115+43C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1405+24C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.122+24C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.700+24C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.912+24C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.132+24C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.259C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.188+24C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5746G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.700+24C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.364+24C>A
  variant of: http://identifiers.org/hgnc/21296
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22574
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

11-721251-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721251
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721251
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 12684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.749-34G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.189-34G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.701-34G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.701-34G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.133-34G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.280G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5725C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1406-34G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.116-34G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.913-34G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.365-34G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.123-34G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.701-34G>C
  variant of: http://identifiers.org/hgnc/21296
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21675
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-721252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721252
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721252
    reference: chr 11
allele count: 15
allele frequency: 1.181474480151229e-3
allele num: 12696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1406-33G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.133-33G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.701-33G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.365-33G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.749-33G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.116-33G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.913-33G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.701-33G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.281G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.123-33G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5724C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.189-33G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.701-33G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21379
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

11-721253-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721253
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721253
    reference: chr 11
allele count: 1
allele frequency: 7.870297497245396e-5
allele num: 12706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.749-32G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.701-32G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.701-32G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.133-32G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.189-32G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.282G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.913-32G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.116-32G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5723C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.365-32G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1406-32G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.701-32G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.123-32G>T
  variant of: http://identifiers.org/hgnc/21296
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-721254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721254
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721254
    reference: chr 11
allele count: 1
allele frequency: 7.861635220125786e-5
allele num: 12720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.283C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.701-31C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.133-31C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5722G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.701-31C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.123-31C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.116-31C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.913-31C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.701-31C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.189-31C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.365-31C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1406-31C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.749-31C>T
  variant of: http://identifiers.org/hgnc/21296
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-721291-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721291
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721291
    reference: chr 11
allele count: 1
allele frequency: 7.119464616260858e-5
allele num: 14046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.755G>C
  hgvsp: ENSP00000436230.1:p.Arg252Pro
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5685C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.195G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.129G>C
  hgvsp: ENSP00000433057.1:p.Arg44Pro
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.139G>C
  hgvsp: ENSP00000437145.1:p.Arg47Pro
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1412G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.707G>C
  hgvsp: ENSP00000436035.1:p.Arg236Pro
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.707G>C
  hgvsp: ENSP00000320828.8:p.Arg236Pro
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.707G>C
  hgvsp: ENSP00000435585.1:p.Arg236Pro
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.371G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.919G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.10G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.122G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.320G>C
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg236Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

11-721293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721293
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721293
    reference: chr 11
allele count: 1
allele frequency: 7.110352673492605e-5
allele num: 14064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.373C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.921C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.709C>T
  hgvsp: ENSP00000436035.1:p.Arg237Cys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5683G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.12C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.709C>T
  hgvsp: ENSP00000435585.1:p.Arg237Cys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.197C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.124C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.322C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.141C>T
  hgvsp: ENSP00000437145.1:p.Arg48Cys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.131C>T
  hgvsp: ENSP00000433057.1:p.Arg45Cys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1414C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.757C>T
  hgvsp: ENSP00000436230.1:p.Arg253Cys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.709C>T
  hgvsp: ENSP00000320828.8:p.Arg237Cys
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg237Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

11-721316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721316
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721316
    reference: chr 11
allele count: 1
allele frequency: 7.074136955291455e-5
allele num: 14136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.944G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1437G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.732G>A
  hgvsp: ENST00000533256.1:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.35G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.732G>A
  hgvsp: ENST00000530636.1:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.396G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.154G>A
  hgvsp: ENST00000530452.2:c.154G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5660C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.345G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.164G>A
  hgvsp: ENST00000528770.1:c.164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.732G>A
  hgvsp: ENST00000318562.8:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.147G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.220G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.780G>A
  hgvsp: ENST00000526198.1:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro244Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum

11-721323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721323
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721323
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 14218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.739G>A
  hgvsp: ENSP00000436035.1:p.Val247Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.739G>A
  hgvsp: ENSP00000435585.1:p.Val247Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.951G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.403G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.787G>A
  hgvsp: ENSP00000436230.1:p.Val263Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1444G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.161G>A
  hgvsp: ENSP00000433057.1:p.Val55Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.739G>A
  hgvsp: ENSP00000320828.8:p.Val247Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.227G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.171G>A
  hgvsp: ENSP00000437145.1:p.Val58Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5653C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.154G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.352G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val247Met
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-721326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721326
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721326
    reference: chr 11
allele count: 1
allele frequency: 7.013606396409034e-5
allele num: 14258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.742C>T
  hgvsp: ENST00000318562.8:c.742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.742C>T
  hgvsp: ENST00000533256.1:c.742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1447C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.174C>T
  hgvsp: ENST00000528770.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.230C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.157C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5650G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.790C>T
  hgvsp: ENST00000526198.1:c.790C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.954C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.406C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.164C>T
  hgvsp: ENST00000530452.2:c.164C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.742C>T
  hgvsp: ENST00000530636.1:c.742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.355C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.45C>T
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu248Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

11-721329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721329
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721329
    reference: chr 11
allele count: 1
allele frequency: 7.02247191011236e-5
allele num: 14240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.793G>A
  hgvsp: ENSP00000436230.1:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.358G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.745G>A
  hgvsp: ENSP00000435585.1:p.Ala249Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1450G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.177G>A
  hgvsp: ENSP00000437145.1:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5647C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.957G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.409G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.160G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.167G>A
  hgvsp: ENSP00000433057.1:p.Ala57Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.745G>A
  hgvsp: ENSP00000320828.8:p.Ala249Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.233G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.745G>A
  hgvsp: ENSP00000436035.1:p.Ala249Thr
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala249Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

11-721331-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721331
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721331
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 14240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.169T>C
  hgvsp: ENST00000530452.2:c.169T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.747T>C
  hgvsp: ENST00000533256.1:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1452T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.179T>C
  hgvsp: ENST00000528770.1:c.179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.360T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5645A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.795T>C
  hgvsp: ENST00000526198.1:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.747T>C
  hgvsp: ENST00000530636.1:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.747T>C
  hgvsp: ENST00000318562.8:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.235T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.162T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.50T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.411T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.959T>C
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30374
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala249Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

11-721336-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721336
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721336
    reference: chr 11
allele count: 2
allele frequency: 1.41282848262221e-4
allele num: 14156
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.752A>T
  hgvsp: ENSP00000435585.1:p.Lys251Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.167A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.184A>T
  hgvsp: ENSP00000437145.1:p.Lys62Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.365A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.964A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.752A>T
  hgvsp: ENSP00000320828.8:p.Lys251Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.174A>T
  hgvsp: ENSP00000433057.1:p.Lys59Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1457A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.416A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.752A>T
  hgvsp: ENSP00000436035.1:p.Lys251Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5640T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.55A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.240A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.800A>T
  hgvsp: ENSP00000436230.1:p.Lys267Met
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys251Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

11-721352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721352
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721352
    reference: chr 11
allele count: 1
allele frequency: 7.323861139592794e-5
allele num: 13654
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.768G>A
  hgvsp: ENST00000533256.1:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.432G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.768G>A
  hgvsp: ENST00000318562.8:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.71G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.190G>A
  hgvsp: ENST00000530452.2:c.190G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.200G>A
  hgvsp: ENST00000528770.1:c.200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.381G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.816G>A
  hgvsp: ENST00000526198.1:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.183G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.256G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1473G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5624C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.768G>A
  hgvsp: ENST00000530636.1:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.980G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31047
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.768G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

11-721374-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721374
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721374
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 12376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.183+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1473+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.768+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.256+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.768+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.816+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5602C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.381+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.71+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.768+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.200+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.980+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.190+22G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.432+22G>T
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

11-721381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721381
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721381
    reference: chr 11
allele count: 1
allele frequency: 8.400537634408603e-5
allele num: 11904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.256+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5595G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.381+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.190+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.200+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.183+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.71+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.816+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.768+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.980+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.768+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.432+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.768+29C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1473+29C>T
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

11-721404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721404
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721404
    reference: chr 11
allele count: 3
allele frequency: 2.760905577029266e-4
allele num: 10866
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.768+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.432+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.71+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.816+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.381+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.183+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5572C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.980+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.256+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1473+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.190+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.200+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.768+52G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.768+52G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35235
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

11-721515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721515
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721515
    reference: chr 11
allele count: 17
allele frequency: 1.90608602054088e-4
allele num: 89188
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5461C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-50G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-50G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12564
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

11-721517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721517
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721517
    reference: chr 11
allele count: 1
allele frequency: 1.108647450110865e-5
allele num: 90200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5459C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-48G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-48G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12274
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

11-721518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721518
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721518
    reference: chr 11
allele count: 1
allele frequency: 1.108573709065916e-5
allele num: 90206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5458C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-47G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-47G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12058
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-721519-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721519
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721519
    reference: chr 11
allele count: 2
allele frequency: 2.219312457000821e-5
allele num: 90118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5457G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-46C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-46C>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

11-721523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721523
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721523
    reference: chr 11
allele count: 1
allele frequency: 1.097550267802265e-5
allele num: 91112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5453C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-42G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-42G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-721528-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721528
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721528
    reference: chr 11
allele count: 5
allele frequency: 5.491246952357941e-5
allele num: 91054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5448C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-37G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-37G>C
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11354
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

11-721531-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721531
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721531
    reference: chr 11
allele count: 1
allele frequency: 1.091369450386345e-5
allele num: 91628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5445A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-34T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-34T>C
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9495
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

11-721534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721534
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721534
    reference: chr 11
allele count: 11
allele frequency: 1.189729390642238e-4
allele num: 92458
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5442C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-31G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-31G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9912
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19258
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

11-721537-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721537
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721537
    reference: chr 11
allele count: 2
allele frequency: 2.150630134629447e-5
allele num: 92996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5439C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-28G>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-28G>T
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

11-721542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721542
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721542
    reference: chr 11
allele count: 2
allele frequency: 2.128112364332837e-5
allele num: 93980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5434G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-23C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-23C>T
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22238
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-721549-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721549
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721549
    reference: chr 11
allele count: 2
allele frequency: 2.060750937641677e-5
allele num: 97052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5427G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-16C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-16C>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11284
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24169
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-721554-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721554
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721554
    reference: chr 11
allele count: 2
allele frequency: 2.007024586051179e-5
allele num: 99650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5422A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-11T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-11T>C
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-721555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721555
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721555
    reference: chr 11
allele count: 46
allele frequency: 4.585418369584721e-4
allele num: 100318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1474-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.257-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.981-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.769-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.433-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.201-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.184-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.769-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.191-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.382-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5421G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.817-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.72-10C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.769-10C>T
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12099
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27186
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/11-721567-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721567
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721567
    reference: chr 11
allele count: 2
allele frequency: 1.894226397939082e-5
allele num: 105584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.771A>C
  hgvsp: ENSP00000320828.8:p.Gln257His
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.771A>C
  hgvsp: ENSP00000435585.1:p.Gln257His
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1476A>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.193A>C
  hgvsp: ENSP00000433057.1:p.Gln65His
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.186A>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.203A>C
  hgvsp: ENSP00000437145.1:p.Gln68His
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.819A>C
  hgvsp: ENSP00000436230.1:p.Gln273His
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.983A>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.384A>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.74A>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5409T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.435A>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.259A>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.771A>C
  hgvsp: ENSP00000436035.1:p.Gln257His
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln257His
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

11-721570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721570
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721570
    reference: chr 11
allele count: 45712
allele frequency: 4.112936603624193e-1
allele num: 111142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.196C>T
  hgvsp: ENST00000530452.2:c.196C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.77C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.262C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.774C>T
  hgvsp: ENST00000533256.1:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1479C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.189C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.774C>T
  hgvsp: ENST00000530636.1:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.774C>T
  hgvsp: ENST00000318562.8:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.206C>T
  hgvsp: ENST00000528770.1:c.206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.822C>T
  hgvsp: ENST00000526198.1:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.438C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.387C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.986C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5406G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13781
  bin: 2.25e1
  variant carriers: 2527
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 490
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 781
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 7.5e0
  variant carriers: 848
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 5.25e1
  variant carriers: 2823
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.75e1
  variant carriers: 2118
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 4.25e1
  variant carriers: 4014
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 2.75e1
  variant carriers: 3311
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 322
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.25e1
  variant carriers: 1748
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 6.75e1
  variant carriers: 1136
genotype quality: GenotypeQuality
hgvs: p.Ile258Ile
num of homozygotes: 10138
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

11-721579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721579
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721579
    reference: chr 11
allele count: 51
allele frequency: 4.552189513897567e-4
allele num: 112034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.215C>T
  hgvsp: ENST00000528770.1:c.215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5397G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.205C>T
  hgvsp: ENST00000530452.2:c.205C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.783C>T
  hgvsp: ENST00000530636.1:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.271C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.783C>T
  hgvsp: ENST00000318562.8:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.783C>T
  hgvsp: ENST00000533256.1:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1488C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.396C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.995C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.198C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.86C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.447C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.831C>T
  hgvsp: ENST00000526198.1:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 20790
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17907
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys261Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

11-721580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721580
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721580
    reference: chr 11
allele count: 2
allele frequency: 1.781578478531979e-5
allele num: 112260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.216G>A
  hgvsp: ENSP00000437145.1:p.Ala73Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.397G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.199G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.784G>A
  hgvsp: ENSP00000435585.1:p.Ala262Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.272G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.87G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.784G>A
  hgvsp: ENSP00000436035.1:p.Ala262Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.832G>A
  hgvsp: ENSP00000436230.1:p.Ala278Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.784G>A
  hgvsp: ENSP00000320828.8:p.Ala262Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1489G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.206G>A
  hgvsp: ENSP00000433057.1:p.Ala70Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.996G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.448G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5396C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala262Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-721583-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721583
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721583
    reference: chr 11
allele count: 2
allele frequency: 1.776861706853356e-5
allele num: 112558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.787C>A
  hgvsp: ENSP00000436035.1:p.Leu263Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.999C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.219C>A
  hgvsp: ENSP00000437145.1:p.Leu74Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.835C>A
  hgvsp: ENSP00000436230.1:p.Leu279Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.209C>A
  hgvsp: ENSP00000433057.1:p.Leu71Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1492C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.451C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.787C>A
  hgvsp: ENSP00000435585.1:p.Leu263Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.90C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.202C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5393G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.275C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.787C>A
  hgvsp: ENSP00000320828.8:p.Leu263Met
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.400C>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu263Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

11-721583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721583
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721583
    reference: chr 11
allele count: 7
allele frequency: 6.219015973986745e-5
allele num: 112558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.202C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.209C>T
  hgvsp: ENST00000530452.2:c.209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.400C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.90C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5393G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1492C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.787C>T
  hgvsp: ENST00000530636.1:c.787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.787C>T
  hgvsp: ENST00000318562.8:c.787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.835C>T
  hgvsp: ENST00000526198.1:c.835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.275C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.219C>T
  hgvsp: ENST00000528770.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.999C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.451C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.787C>T
  hgvsp: ENST00000533256.1:c.787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18379
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu263Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-721588-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721588
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721588
    reference: chr 11
allele count: 1
allele frequency: 8.865091044485026e-6
allele num: 112802
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5388G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.456C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.792C>A
  hgvsp: ENSP00000436035.1:p.Asp264Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.792C>A
  hgvsp: ENSP00000435585.1:p.Asp264Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.95C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.224C>A
  hgvsp: ENSP00000437145.1:p.Asp75Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.405C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1004C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.214C>A
  hgvsp: ENSP00000433057.1:p.Asp72Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.840C>A
  hgvsp: ENSP00000436230.1:p.Asp280Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.280C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.207C>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.792C>A
  hgvsp: ENSP00000320828.8:p.Asp264Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1497C>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp264Glu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-721589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721589
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721589
    reference: chr 11
allele count: 1
allele frequency: 8.858494410290027e-6
allele num: 112886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.225G>A
  hgvsp: ENSP00000437145.1:p.Asp76Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.793G>A
  hgvsp: ENSP00000436035.1:p.Asp265Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.841G>A
  hgvsp: ENSP00000436230.1:p.Asp281Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.208G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1498G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.793G>A
  hgvsp: ENSP00000320828.8:p.Asp265Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5387C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.96G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.793G>A
  hgvsp: ENSP00000435585.1:p.Asp265Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1005G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.215G>A
  hgvsp: ENSP00000433057.1:p.Asp73Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.457G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.406G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.281G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp265Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-721593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721593
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721593
    reference: chr 11
allele count: 1
allele frequency: 8.845330550002654e-6
allele num: 113054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.461T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.797T>C
  hgvsp: ENSP00000436035.1:p.Ile266Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.285T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.797T>C
  hgvsp: ENSP00000435585.1:p.Ile266Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.219T>C
  hgvsp: ENSP00000433057.1:p.Ile74Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1502T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.410T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.229T>C
  hgvsp: ENSP00000437145.1:p.Ile77Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1009T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.100T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.845T>C
  hgvsp: ENSP00000436230.1:p.Ile282Thr
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.212T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5383A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.797T>C
  hgvsp: ENSP00000320828.8:p.Ile266Thr
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile266Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-721597-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721597
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721597
    reference: chr 11
allele count: 1
allele frequency: 8.82861885086697e-6
allele num: 113268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.414G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.801G>C
  hgvsp: ENSP00000436035.1:p.Glu267Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.801G>C
  hgvsp: ENSP00000435585.1:p.Glu267Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.849G>C
  hgvsp: ENSP00000436230.1:p.Glu283Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.223G>C
  hgvsp: ENSP00000433057.1:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.233G>C
  hgvsp: ENSP00000437145.1:p.Glu78Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.465G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.289G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5379C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.801G>C
  hgvsp: ENSP00000320828.8:p.Glu267Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.216G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1506G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1013G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.104G>C
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu267Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum

11-721601-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721601
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721601
    reference: chr 11
allele count: 1
allele frequency: 8.850967410737994e-6
allele num: 112982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1510T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.418T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5375A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.805T>C
  hgvsp: ENSP00000435585.1:p.Phe269Leu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.805T>C
  hgvsp: ENSP00000436035.1:p.Phe269Leu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.853T>C
  hgvsp: ENSP00000436230.1:p.Phe285Leu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1017T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.237T>C
  hgvsp: ENSP00000437145.1:p.Phe80Leu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.220T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.805T>C
  hgvsp: ENSP00000320828.8:p.Phe269Leu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.469T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.227T>C
  hgvsp: ENSP00000433057.1:p.Phe77Leu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.108T>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.293T>C
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21316
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe269Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

11-721609-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721609
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721609
    reference: chr 11
allele count: 10
allele frequency: 8.91472177153351e-5
allele num: 112174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.813C>T
  hgvsp: ENST00000318562.8:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.813C>T
  hgvsp: ENST00000533256.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.116C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1518C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.861C>T
  hgvsp: ENST00000526198.1:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.245C>T
  hgvsp: ENST00000528770.1:c.245C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.813C>T
  hgvsp: ENST00000530636.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.235C>T
  hgvsp: ENST00000530452.2:c.235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.228C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1025C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5367G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.477C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.301C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.426C>T
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 21011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8889
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala271Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS

11-721610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721610
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721610
    reference: chr 11
allele count: 3
allele frequency: 2.675752332364116e-5
allele num: 112118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1026C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.236C>T
  hgvsp: ENSP00000433057.1:p.Arg80Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.814C>T
  hgvsp: ENSP00000320828.8:p.Arg272Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.814C>T
  hgvsp: ENSP00000435585.1:p.Arg272Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.862C>T
  hgvsp: ENSP00000436230.1:p.Arg288Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.478C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.246C>T
  hgvsp: ENSP00000437145.1:p.Arg83Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.427C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.302C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1519C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.117C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5366G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.229C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.814C>T
  hgvsp: ENSP00000436035.1:p.Arg272Trp
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg272Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

11-721611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721611
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721611
    reference: chr 11
allele count: 3
allele frequency: 2.686342634048497e-5
allele num: 111676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.230G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.303G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.815G>A
  hgvsp: ENSP00000435585.1:p.Arg272Gln
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.815G>A
  hgvsp: ENSP00000320828.8:p.Arg272Gln
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.863G>A
  hgvsp: ENSP00000436230.1:p.Arg288Gln
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.428G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.479G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.237G>A
  hgvsp: ENSP00000433057.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.247G>A
  hgvsp: ENSP00000437145.1:p.Arg83Gln
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.815G>A
  hgvsp: ENSP00000436035.1:p.Arg272Gln
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1520G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1027G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5365C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.118G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg272Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

11-721621-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721621
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721621
    reference: chr 11
allele count: 1
allele frequency: 8.912338241060925e-6
allele num: 112204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.240G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1530G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.128G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5355C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.825G>C
  hgvsp: ENSP00000436035.1:p.Lys275Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1037G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.313G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.825G>C
  hgvsp: ENSP00000320828.8:p.Lys275Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.257G>C
  hgvsp: ENSP00000437145.1:p.Lys86Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.825G>C
  hgvsp: ENSP00000435585.1:p.Lys275Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.438G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.247G>C
  hgvsp: ENSP00000433057.1:p.Lys83Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.489G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.873G>C
  hgvsp: ENSP00000436230.1:p.Lys291Asn
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys275Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

11-721627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721627
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721627
    reference: chr 11
allele count: 1
allele frequency: 8.893948557401545e-6
allele num: 112436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.134C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1043C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5349G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1536C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.444C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.246C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.879C>T
  hgvsp: ENST00000526198.1:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.495C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.831C>T
  hgvsp: ENST00000533256.1:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.831C>T
  hgvsp: ENST00000318562.8:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.253C>T
  hgvsp: ENST00000530452.2:c.253C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.319C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.831C>T
  hgvsp: ENST00000530636.1:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.263C>T
  hgvsp: ENST00000528770.1:c.263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala277Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-721628-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721628
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721628
    reference: chr 11
allele count: 2
allele frequency: 1.769473050925435e-5
allele num: 113028
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.832G>A
  hgvsp: ENSP00000435585.1:p.Glu278Lys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1044G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.254G>A
  hgvsp: ENSP00000433057.1:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.832G>A
  hgvsp: ENSP00000436035.1:p.Glu278Lys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.320G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.264G>A
  hgvsp: ENSP00000437145.1:p.Glu89Lys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.445G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1537G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5348C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.135G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.832G>A
  hgvsp: ENSP00000320828.8:p.Glu278Lys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.880G>A
  hgvsp: ENSP00000436230.1:p.Glu294Lys
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.247G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.496G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu278Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

11-721630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721630
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721630
    reference: chr 11
allele count: 1
allele frequency: 8.814766496835499e-6
allele num: 113446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.322G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.834G>A
  hgvsp: ENST00000530636.1:c.834G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5346C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.834G>A
  hgvsp: ENST00000318562.8:c.834G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.834G>A
  hgvsp: ENST00000533256.1:c.834G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.266G>A
  hgvsp: ENST00000528770.1:c.266G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.137G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.882G>A
  hgvsp: ENST00000526198.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.447G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.249G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1046G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1539G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.256G>A
  hgvsp: ENST00000530452.2:c.256G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.498G>A
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu278Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-721630-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721630
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721630
    reference: chr 11
allele count: 2
allele frequency: 1.7629532993671e-5
allele num: 113446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.834G>C
  hgvsp: ENSP00000435585.1:p.Glu278Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.882G>C
  hgvsp: ENSP00000436230.1:p.Glu294Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.266G>C
  hgvsp: ENSP00000437145.1:p.Glu89Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1046G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.834G>C
  hgvsp: ENSP00000436035.1:p.Glu278Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.256G>C
  hgvsp: ENSP00000433057.1:p.Glu86Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.249G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5346C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1539G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.498G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.137G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000531471
  gene symbol: EPS8L2
  hgvsc: ENST00000531471.1:n.447G>C
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.834G>C
  hgvsp: ENSP00000320828.8:p.Glu278Asp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.322G>C
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu278Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

11-721637-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721637
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721637
    reference: chr 11
allele count: 1
allele frequency: 8.775008775008775e-6
allele num: 113960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.144A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.841A>G
  hgvsp: ENSP00000435585.1:p.Lys281Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.841A>G
  hgvsp: ENSP00000320828.8:p.Lys281Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.273A>G
  hgvsp: ENSP00000437145.1:p.Lys92Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.329A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.505A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.889A>G
  hgvsp: ENSP00000436230.1:p.Lys297Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1053A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.256A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1546A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.263A>G
  hgvsp: ENSP00000433057.1:p.Lys89Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.841A>G
  hgvsp: ENSP00000436035.1:p.Lys281Glu
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5339T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys281Glu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

11-721643-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721643
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721643
    reference: chr 11
allele count: 4
allele frequency: 3.504529604513834e-5
allele num: 114138
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5333G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.511C>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.150C>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.895C>G
  hgvsp: ENSP00000436230.1:p.Leu299Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.269C>G
  hgvsp: ENSP00000433057.1:p.Leu91Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.335C>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.279C>G
  hgvsp: ENSP00000437145.1:p.Leu94Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1059C>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.847C>G
  hgvsp: ENSP00000320828.8:p.Leu283Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.847C>G
  hgvsp: ENSP00000436035.1:p.Leu283Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.847C>G
  hgvsp: ENSP00000435585.1:p.Leu283Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.262C>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1552C>G
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu283Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

11-721649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721649
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721649
    reference: chr 11
allele count: 9
allele frequency: 7.859987424020121e-5
allele num: 114504
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.853C>T
  hgvsp: ENSP00000435585.1:p.Gln285Ter
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.901C>T
  hgvsp: ENSP00000436230.1:p.Gln301Ter
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.853C>T
  hgvsp: ENSP00000320828.8:p.Gln285Ter
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.853C>T
  hgvsp: ENSP00000436035.1:p.Gln285Ter
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.275C>T
  hgvsp: ENSP00000433057.1:p.Gln93Ter
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1558C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.517C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.285C>T
  hgvsp: ENSP00000437145.1:p.Gln96Ter
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5327G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.268C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1065C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.341C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.156C>T
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln285Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

11-721652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721652
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721652
    reference: chr 11
allele count: 2
allele frequency: 1.746084405720172e-5
allele num: 114542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.278C>T
  hgvsp: ENSP00000433057.1:p.Arg94Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.159C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.288C>T
  hgvsp: ENSP00000437145.1:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1068C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.856C>T
  hgvsp: ENSP00000436035.1:p.Arg286Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.344C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.856C>T
  hgvsp: ENSP00000320828.8:p.Arg286Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.856C>T
  hgvsp: ENSP00000435585.1:p.Arg286Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.904C>T
  hgvsp: ENSP00000436230.1:p.Arg302Trp
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.520C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1561C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5324G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.271C>T
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg286Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

11-721657-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721657
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721657
    reference: chr 11
allele count: 7
allele frequency: 6.097136088077486e-5
allele num: 114808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.861A>T
  hgvsp: ENSP00000320828.8:p.Lys287Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.164A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.909A>T
  hgvsp: ENSP00000436230.1:p.Lys303Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.276A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.525A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.283A>T
  hgvsp: ENSP00000433057.1:p.Lys95Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.861A>T
  hgvsp: ENSP00000436035.1:p.Lys287Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.293A>T
  hgvsp: ENSP00000437145.1:p.Lys98Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1073A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.861A>T
  hgvsp: ENSP00000435585.1:p.Lys287Asn
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5319T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.349A>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1566A>T
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys287Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

11-721661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721661
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721661
    reference: chr 11
allele count: 1
allele frequency: 8.693082045308344e-6
allele num: 115034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.353G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.529G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.913G>A
  hgvsp: ENSP00000436230.1:p.Gly305Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1077G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.280G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.297G>A
  hgvsp: ENSP00000437145.1:p.Gly100Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.865G>A
  hgvsp: ENSP00000320828.8:p.Gly289Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1570G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.865G>A
  hgvsp: ENSP00000435585.1:p.Gly289Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.168G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.287G>A
  hgvsp: ENSP00000433057.1:p.Gly97Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5315C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.865G>A
  hgvsp: ENSP00000436035.1:p.Gly289Arg
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly289Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

11-721662-G-GGAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721662
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721665
    reference: chr 11
allele count: 1
allele frequency: 8.695803405276614e-6
allele num: 114998
alternate allele: GGAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.538_540dupAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1086_1088dupAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.296_298dupAAG
  hgvsp: ENSP00000433057.1:p.Lys100dup
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.874_876dupAAG
  hgvsp: ENSP00000436035.1:p.Lys292dup
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.874_876dupAAG
  hgvsp: ENSP00000435585.1:p.Lys292dup
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.874_876dupAAG
  hgvsp: ENSP00000320828.8:p.Lys292dup
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1579_*1581dupAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.306_308dupAAG
  hgvsp: ENSP00000437145.1:p.Lys103dup
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.177_179dupAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.362_364dupAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5311_72+5313dupTTC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.289_291dupAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.922_924dupAAG
  hgvsp: ENSP00000436230.1:p.Lys308dup
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19101
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys292dup
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

11-721662-GGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721662
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721659
    reference: chr 11
allele count: 1
allele frequency: 8.695803405276614e-6
allele num: 114998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.296_298delAAG
  hgvsp: ENSP00000433057.1:p.Lys100del
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1086_1088delAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.874_876delAAG
  hgvsp: ENSP00000320828.8:p.Lys292del
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.922_924delAAG
  hgvsp: ENSP00000436230.1:p.Lys308del
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.306_308delAAG
  hgvsp: ENSP00000437145.1:p.Lys103del
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.362_364delAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1579_*1581delAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.538_540delAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5311_72+5313delTTC
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.874_876delAAG
  hgvsp: ENSP00000435585.1:p.Lys292del
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.874_876delAAG
  hgvsp: ENSP00000436035.1:p.Lys292del
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.177_179delAAG
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.289_291delAAG
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys292del
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: GGAA
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

11-721663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721663
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721663
    reference: chr 11
allele count: 1
allele frequency: 8.694291328313829e-6
allele num: 115018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.282G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1572G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.867G>A
  hgvsp: ENST00000530636.1:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.299G>A
  hgvsp: ENST00000528770.1:c.299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.531G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1079G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.867G>A
  hgvsp: ENST00000318562.8:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.867G>A
  hgvsp: ENST00000533256.1:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.355G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5313C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.170G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.915G>A
  hgvsp: ENST00000526198.1:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.289G>A
  hgvsp: ENST00000530452.2:c.289G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly289Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

11-721672-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721672
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721672
    reference: chr 11
allele count: 1
allele frequency: 8.691117677733357e-6
allele num: 115060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.364G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.876G>A
  hgvsp: ENST00000530636.1:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.876G>A
  hgvsp: ENST00000533256.1:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.179G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.291G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.298G>A
  hgvsp: ENST00000530452.2:c.298G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.924G>A
  hgvsp: ENST00000526198.1:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.308G>A
  hgvsp: ENST00000528770.1:c.308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.876G>A
  hgvsp: ENST00000318562.8:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1581G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1088G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.540G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5304C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19108
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys292Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

11-721673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721673
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721673
    reference: chr 11
allele count: 1
allele frequency: 8.696559641006019e-6
allele num: 114988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.541G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.925G>A
  hgvsp: ENSP00000436230.1:p.Gly309Ser
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.292G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.365G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1089G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.877G>A
  hgvsp: ENSP00000320828.8:p.Gly293Ser
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.180G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.299G>A
  hgvsp: ENSP00000433057.1:p.Gly101Ser
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.877G>A
  hgvsp: ENSP00000436035.1:p.Gly293Ser
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.309G>A
  hgvsp: ENSP00000437145.1:p.Gly104Ser
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1582G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.877G>A
  hgvsp: ENSP00000435585.1:p.Gly293Ser
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5303C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly293Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

11-721678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721678
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721678
    reference: chr 11
allele count: 1
allele frequency: 8.700494188069882e-6
allele num: 114936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.930G>A
  hgvsp: ENST00000526198.1:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.882G>A
  hgvsp: ENST00000530636.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.882G>A
  hgvsp: ENST00000533256.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.882G>A
  hgvsp: ENST00000318562.8:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.304G>A
  hgvsp: ENST00000530452.2:c.304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.546G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.314G>A
  hgvsp: ENST00000528770.1:c.314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.185G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1094G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1587G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.370G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.297G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5298C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys294Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

11-721680-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721680
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721680
    reference: chr 11
allele count: 1
allele frequency: 8.726155779332973e-6
allele num: 114598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1096A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5296T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.372A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.306A>G
  hgvsp: ENSP00000433057.1:p.Lys103Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.884A>G
  hgvsp: ENSP00000435585.1:p.Lys295Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.932A>G
  hgvsp: ENSP00000436230.1:p.Lys311Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1589A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.884A>G
  hgvsp: ENSP00000436035.1:p.Lys295Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.884A>G
  hgvsp: ENSP00000320828.8:p.Lys295Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.187A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.316A>G
  hgvsp: ENSP00000437145.1:p.Lys106Arg
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.299A>G
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.548A>G
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys295Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

11-721683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721683
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721683
    reference: chr 11
allele count: 1
allele frequency: 8.72493761669604e-6
allele num: 114614
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.887C>T
  hgvsp: ENSP00000435585.1:p.Ala296Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1592C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.887C>T
  hgvsp: ENSP00000320828.8:p.Ala296Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.190C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.319C>T
  hgvsp: ENSP00000437145.1:p.Ala107Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.551C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.935C>T
  hgvsp: ENSP00000436230.1:p.Ala312Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1099C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5293G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.887C>T
  hgvsp: ENSP00000436035.1:p.Ala296Val
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.375C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.302C>T
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.309C>T
  hgvsp: ENSP00000433057.1:p.Ala104Val
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22758
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala296Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

11-721683-CGCCAGCAGGTGCAGGGGACAGGGACGGGGCCGGCAGGTGCAGGGGACGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721683
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721633
    reference: chr 11
allele count: 6
allele frequency: 5.234962570017624e-5
allele num: 114614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18744
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: CGCCAGCAGGTGCAGGGGACAGGGACGGGGCCGGCAGGTGCAGGGGACGGG
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

11-721684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721684
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721684
    reference: chr 11
allele count: 5
allele frequency: 4.366125849211478e-5
allele num: 114518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  hgvsc: ENST00000526198.1:c.936G>A
  hgvsp: ENST00000526198.1:c.936G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  hgvsc: ENST00000528770.1:c.320G>A
  hgvsp: ENST00000528770.1:c.320G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  hgvsc: ENST00000533816.1:n.191G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  hgvsc: ENST00000524474.1:n.552G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  hgvsc: ENST00000529346.1:n.1100G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  hgvsc: ENST00000530452.2:c.310G>A
  hgvsp: ENST00000530452.2:c.310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  hgvsc: ENST00000532545.1:n.303G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  hgvsc: ENST00000533256.1:c.888G>A
  hgvsp: ENST00000533256.1:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  hgvsc: ENST00000530636.1:c.888G>A
  hgvsp: ENST00000530636.1:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  hgvsc: ENST00000526651.1:n.376G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  hgvsc: ENST00000318562.8:c.888G>A
  hgvsp: ENST00000318562.8:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  hgvsc: ENST00000526909.1:c.*1593G>A
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
  hgvsc: ENST00000527021.2:n.72+5292C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18600
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala296Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum

11-721687-AGCAGGTGCAGGGGACAGGGACGGGGCCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 721687
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 721659
    reference: chr 11
allele count: 2
allele frequency: 1.746877456546423e-5
allele num: 114490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000437145
  ensembl transcript: ENST00000528770
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433057
  ensembl transcript: ENST00000530452
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269915
  ensembl transcript: ENST00000527021
  gene symbol: AP006621.9
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436230
  ensembl transcript: ENST00000526198
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000529346
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000532545
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000526651
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000436035
  ensembl transcript: ENST00000530636
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000320828
  ensembl transcript: ENST00000318562
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000524474
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl transcript: ENST00000533816
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000433173
  ensembl transcript: ENST00000526909
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177106
  ensembl protein: ENSP00000435585
  ensembl transcript: ENST00000533256
  gene symbol: EPS8L2
  variant of: http://identifiers.org/hgnc/21296
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: AGCAGGTGCAGGGGACAGGGACGGGGCCG

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

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

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

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

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19371
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.689e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.169999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 1.92403e5

GenotypeDepth
all individuals: 227
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18483
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 2.75e1
variant carriers: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
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QD
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 7.27e-1

FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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SIO_000300: 2.02722e5

ClippingRankSum
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SIO_000300: -2.19e-1

GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4044
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 12
allele frequency: 4.615384615384616e-2
allele num: 260
num of homozygotes: 0

African
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allele frequency: 2.544529262086514e-3
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num of homozygotes: 0

Other
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allele frequency: 7.692307692307693e-3
allele num: 130
num of homozygotes: 0

South Asian
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FS
type: SiteQuality
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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SIO_000300: 2.02051e5

MQ
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InbreedingCoeff
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SIO_000300: -7.61e-2

VQSLOD
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

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

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

East Asian
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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
allele num: 192
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.471576866040534e-4
allele num: 4046
num of homozygotes: 0

MQRankSum
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SIO_000300: -6.02e-1

FS
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MQ
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QD
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VQSLOD
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BaseQRankSum
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SIO_000300: -3.24e-1

InbreedingCoeff
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SIO_000300: -7.829999999999999e-2

DP
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SIO_000300: 2.01778e5

ClippingRankSum
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SIO_000300: 8.8e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.37211855104281e-4
allele num: 7288
num of homozygotes: 0

Latino
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
allele num: 786
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4054
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.032e0

MQRankSum
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SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 2.02782e5

QD
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -7.79e-2

ClippingRankSum
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SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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African
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
allele frequency: 2.065262288310616e-4
allele num: 4842
num of homozygotes: 0

DP
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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SIO_000300: 1.71e-1

ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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MQ
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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Other
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Latino
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South Asian
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European (Finnish)
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MQ
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 952
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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Latino
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Other
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European (Non-Finnish)
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allele num: 3946
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ClippingRankSum
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DP
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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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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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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East Asian
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allele frequency: 1.493347814281835e-3
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South Asian
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African
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Other
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European (Non-Finnish)
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allele frequency: 1.185255422543558e-4
allele num: 50622
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BaseQRankSum
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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VQSLOD
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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Other
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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Latino
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South Asian
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 51774
num of homozygotes: 0

Latino
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allele frequency: 1.030290541932825e-4
allele num: 9706
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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DP
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 51688
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 5.13557929334429e-4
allele num: 9736
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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MQ
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FS
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BaseQRankSum
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DP
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SIO_000300: 1.052287e6

VQSLOD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 1.382361072712192e-4
allele num: 7234
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52022
num of homozygotes: 0

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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num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.54323499491353e-4
allele num: 7864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54894
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.409e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.474e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
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SIO_000300: 1.215453e6

QD
type: SiteQuality
SIO_000300: 1.015e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

GenotypeDepth
all individuals: 1080
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variant carriers: 0

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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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.55088417015837e-5
allele num: 56324
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.193e1

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.263502e6

FS
type: SiteQuality
SIO_000300: 7.93e-1

BaseQRankSum
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SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 6

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: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 43

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 546
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variant carriers: 1

GenotypeQuality
all individuals: 5721
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5930
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.466275659824047e-3
allele num: 682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 7.7631532517026e-4
allele num: 56678
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.227295041728031e-4
allele num: 8148
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.271897e6

ClippingRankSum
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.577e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

QD
type: SiteQuality
SIO_000300: 1.198e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 4463
bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 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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GenotypeQuality
all individuals: 1407
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6355
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.407318247472316e-4
allele num: 8308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.345001e6

FS
type: SiteQuality
SIO_000300: 4.679e0

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.313e1

GenotypeDepth
all individuals: 2223
bin: 5.75e1
variant carriers: 2190

GenotypeDepth
all individuals: 5477
bin: 3.25e1
variant carriers: 4019

GenotypeDepth
all individuals: 3588
bin: 4.75e1
variant carriers: 3514

GenotypeDepth
all individuals: 4588
bin: 3.75e1
variant carriers: 4232

GenotypeDepth
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variant carriers: 478

GenotypeDepth
all individuals: 212
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variant carriers: 201

GenotypeDepth
all individuals: 1682
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variant carriers: 1663

GenotypeQuality
all individuals: 542
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variant carriers: 218

GenotypeQuality
all individuals: 444
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variant carriers: 259

GenotypeQuality
all individuals: 452
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variant carriers: 351

GenotypeQuality
all individuals: 3228
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variant carriers: 182

GenotypeQuality
all individuals: 169
bin: 1.25e1
variant carriers: 87

GenotypeQuality
all individuals: 263
bin: 4.25e1
variant carriers: 153

GenotypeQuality
all individuals: 394
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variant carriers: 262

GenotypeQuality
all individuals: 557
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variant carriers: 77

GenotypeQuality
all individuals: 490
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variant carriers: 24

GenotypeQuality
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GenotypeQuality
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variant carriers: 444

GenotypeQuality
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variant carriers: 500

GenotypeQuality
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variant carriers: 237

GenotypeQuality
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GenotypeQuality
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variant carriers: 372

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 31671

GenotypeQuality
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variant carriers: 389

GenotypeQuality
all individuals: 727
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variant carriers: 513

South Asian
type: Population
allele count: 3126
allele frequency: 2.475451377890402e-1
allele num: 12628
num of homozygotes: 359

European (Finnish)
type: Population
allele count: 2951
allele frequency: 4.582298136645963e-1
allele num: 6440
num of homozygotes: 663

Latino
type: Population
allele count: 6571
allele frequency: 5.852333452084075e-1
allele num: 11228
num of homozygotes: 1940

African
type: Population
allele count: 2035
allele frequency: 2.21677559912854e-1
allele num: 9180
num of homozygotes: 228

Other
type: Population
allele count: 305
allele frequency: 3.8125e-1
allele num: 800
num of homozygotes: 56

East Asian
type: Population
allele count: 1437
allele frequency: 1.716845878136201e-1
allele num: 8370
num of homozygotes: 119

European (Non-Finnish)
type: Population
allele count: 29287
allele frequency: 4.686219918074757e-1
allele num: 62496
num of homozygotes: 6773

QD
type: SiteQuality
SIO_000300: 1.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.489999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

FS
type: SiteQuality
SIO_000300: 6.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 2.006432e6

GenotypeDepth
all individuals: 183
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1423
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 60
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variant carriers: 1

GenotypeDepth
all individuals: 36
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GenotypeDepth
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GenotypeDepth
all individuals: 74
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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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variant carriers: 51

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 586
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variant carriers: 0

GenotypeQuality
all individuals: 383
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

East Asian
type: Population
allele count: 51
allele frequency: 6.008482563619228e-3
allele num: 8488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.592e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.213e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

FS
type: SiteQuality
SIO_000300: 1.334e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 1.522e6

GenotypeDepth
all individuals: 1996
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
all individuals: 20
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GenotypeDepth
all individuals: 178
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GenotypeDepth
all individuals: 526
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
all individuals: 4372
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 213
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GenotypeQuality
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GenotypeQuality
all individuals: 336
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GenotypeQuality
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GenotypeQuality
all individuals: 142
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GenotypeQuality
all individuals: 409
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 377
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GenotypeQuality
all individuals: 913
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variant carriers: 0

GenotypeQuality
all individuals: 7492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.593016216905088e-5
allele num: 62774
num of homozygotes: 0

East Asian
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allele frequency: 1.177578897786152e-4
allele num: 8492
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.523204e6

BaseQRankSum
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QD
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FS
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.527883880825057e-4
allele num: 13090
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62878
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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MQRankSum
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SIO_000300: 4.47e-1

BaseQRankSum
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.527543e6

QD
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ClippingRankSum
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SIO_000300: 2.32e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
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allele count: 7
allele frequency: 7.48983522362508e-4
allele num: 9346
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62878
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 2.32e-1

DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.9e-3

MQ
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SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 6.05e-1

MQRankSum
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SIO_000300: 4.47e-1

QD
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SIO_000300: 1.157e1

BaseQRankSum
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SIO_000300: -2.155e0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.066780456582035e-4
allele num: 9374
num of homozygotes: 0

Latino
type: Population
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: 0
allele frequency: 0.0e0
allele num: 62924
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FS
type: SiteQuality
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VQSLOD
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SIO_000300: -3.052e-1

MQRankSum
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DP
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ClippingRankSum
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SIO_000300: 4.25e-1

InbreedingCoeff
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SIO_000300: 2.7e-3

BaseQRankSum
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SIO_000300: -7.35e-1

ReadPosRankSum
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SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 1.264e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.588310038119441e-5
allele num: 62960
num of homozygotes: 0

African
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Other
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East Asian
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South Asian
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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BaseQRankSum
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QD
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585489599188229e-5
allele num: 63072
num of homozygotes: 0

Latino
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Other
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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African
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East Asian
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MQRankSum
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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VQSLOD
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SIO_000300: 4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 3.221e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

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: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7400
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62890
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.082251082251082e-4
allele num: 9240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13580
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.192e0

FS
type: SiteQuality
SIO_000300: 4.151e0

QD
type: SiteQuality
SIO_000300: 2.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 1.530827e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 9.75e1
variant carriers: 9

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.445458049595272e-4
allele num: 62264
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.305669199298655e-5
allele num: 13688
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.976e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

DP
type: SiteQuality
SIO_000300: 1.509197e6

VQSLOD
type: SiteQuality
SIO_000300: -3.678e0

QD
type: SiteQuality
SIO_000300: 1.103e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.122e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

FS
type: SiteQuality
SIO_000300: 1.75e0

GenotypeDepth
all individuals: 948
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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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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 7060
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GenotypeQuality
all individuals: 495
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.820206304829847e-5
allele num: 62238
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.50857e6

FS
type: SiteQuality
SIO_000300: 3.832e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.842927711232363e-5
allele num: 61946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13690
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

FS
type: SiteQuality
SIO_000300: 6.323e0

QD
type: SiteQuality
SIO_000300: 1.084e1

VQSLOD
type: SiteQuality
SIO_000300: -4.591e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.501534e6

MQ
type: SiteQuality
SIO_000300: 5.895e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17098
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variant carriers: 0

GenotypeDepth
all individuals: 26
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeDepth
all individuals: 32
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variant carriers: 0

GenotypeDepth
all individuals: 58
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607200257152041e-5
allele num: 62220
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.296e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e0

FS
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 7.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.998e0

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

GenotypeQuality
all individuals: 152
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GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605497222489805e-5
allele num: 62286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13976
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

DP
type: SiteQuality
SIO_000300: 1.512657e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 66
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.190606853423521e-5
allele num: 62684
num of homozygotes: 0

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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num of homozygotes: 0

BaseQRankSum
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DP
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 1.588310038119441e-5
allele num: 62960
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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East Asian
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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QD
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FS
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VQSLOD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.761183515322297e-4
allele num: 11356
num of homozygotes: 0

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

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.582278481012658e-5
allele num: 63200
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FS
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

East Asian
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African
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South Asian
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European (Non-Finnish)
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allele num: 63296
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European (Finnish)
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Other
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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DP
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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Other
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European (Non-Finnish)
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allele frequency: 9.455966714997163e-5
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European (Finnish)
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East Asian
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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FS
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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Other
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European (Finnish)
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FS
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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African
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Latino
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MQRankSum
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 63634
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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South Asian
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ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele num: 8530
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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VQSLOD
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MQRankSum
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DP
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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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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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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FS
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DP
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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MQ
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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DP
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InbreedingCoeff
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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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South Asian
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Latino
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African
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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FS
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MQ
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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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European (Finnish)
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Latino
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African
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South Asian
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East Asian
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Other
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FS
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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11312
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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Other
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European (Finnish)
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South Asian
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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