11-65638023-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638023
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638023
    reference: chr 11
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.474C>A
  hgvsp: ENST00000527378.1:c.474C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.474C>A
  hgvsp: ENST00000528176.1:c.474C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.474C>A
  hgvsp: ENST00000531972.1:c.474C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*286C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.474C>A
  hgvsp: ENST00000526624.1:c.474C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1468C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.153C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.474C>A
  hgvsp: ENST00000307998.6:c.474C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*286C>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile158Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

11-65638026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638026
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638026
    reference: chr 11
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.471G>A
  hgvsp: ENST00000307998.6:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1465G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.471G>A
  hgvsp: ENST00000531972.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.471G>A
  hgvsp: ENST00000526624.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.150G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.471G>A
  hgvsp: ENST00000527378.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*283G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.471G>A
  hgvsp: ENST00000528176.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*283G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys157Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

11-65638030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638030
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638030
    reference: chr 11
allele count: 2
allele frequency: 1.666777785185679e-5
allele num: 119992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1461G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.467G>A
  hgvsp: ENSP00000434151.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.467G>A
  hgvsp: ENSP00000309953.6:p.Arg156His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*279G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*279G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.467G>A
  hgvsp: ENSP00000435295.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.146G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.467G>A
  hgvsp: ENSP00000435419.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.467G>A
  hgvsp: ENSP00000435963.1:p.Arg156His
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13799
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg156His
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

11-65638031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638031
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638031
    reference: chr 11
allele count: 3
allele frequency: 2.49904203388701e-5
allele num: 120046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.466C>T
  hgvsp: ENSP00000434151.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.145C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.466C>T
  hgvsp: ENSP00000435295.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*278C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.466C>T
  hgvsp: ENSP00000435419.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.466C>T
  hgvsp: ENSP00000309953.6:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*278C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.466C>T
  hgvsp: ENSP00000435963.1:p.Arg156Cys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1460C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19169
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg156Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

11-65638031-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638031
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638031
    reference: chr 11
allele count: 2
allele frequency: 1.66602802259134e-5
allele num: 120046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1460C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.466C>A
  hgvsp: ENSP00000434151.1:p.Arg156Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.466C>A
  hgvsp: ENSP00000435963.1:p.Arg156Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.466C>A
  hgvsp: ENSP00000309953.6:p.Arg156Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.145C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*278C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.466C>A
  hgvsp: ENSP00000435419.1:p.Arg156Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.466C>A
  hgvsp: ENSP00000435295.1:p.Arg156Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*278C>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg156Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-65638034-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638034
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638034
    reference: chr 11
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*275T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.463T>G
  hgvsp: ENSP00000309953.6:p.Tyr155Asp
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*275T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.463T>G
  hgvsp: ENSP00000434151.1:p.Tyr155Asp
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.463T>G
  hgvsp: ENSP00000435963.1:p.Tyr155Asp
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.463T>G
  hgvsp: ENSP00000435419.1:p.Tyr155Asp
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.463T>G
  hgvsp: ENSP00000435295.1:p.Tyr155Asp
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.142T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1457T>G
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr155Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

11-65638037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638037
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638037
    reference: chr 11
allele count: 1
allele frequency: 8.322237017310253e-6
allele num: 120160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*272G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.460G>A
  hgvsp: ENSP00000435295.1:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.460G>A
  hgvsp: ENSP00000309953.6:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.460G>A
  hgvsp: ENSP00000435963.1:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1454G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.460G>A
  hgvsp: ENSP00000434151.1:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*272G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.139G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.460G>A
  hgvsp: ENSP00000435419.1:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly154Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-65638042-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638042
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638042
    reference: chr 11
allele count: 3
allele frequency: 2.495300517358974e-5
allele num: 120226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.455C>A
  hgvsp: ENSP00000434151.1:p.Pro152His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.455C>A
  hgvsp: ENSP00000435963.1:p.Pro152His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.455C>A
  hgvsp: ENSP00000435295.1:p.Pro152His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1449C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*267C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.455C>A
  hgvsp: ENSP00000435419.1:p.Pro152His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.455C>A
  hgvsp: ENSP00000309953.6:p.Pro152His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.134C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*267C>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro152His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

11-65638062-G-GCCGGGCAGGTGCACTGATAGGAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638062
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638085
    reference: chr 11
allele count: 2
allele frequency: 1.661571181709424e-5
allele num: 120368
alternate allele: GCCGGGCAGGTGCACTGATAGGAT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsp: ENSP00000435963.1:p.Asp153AlafsTer21
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsp: ENSP00000434151.1:p.Asp153AlafsTer21
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsp: ENSP00000435295.1:p.Asp153AlafsTer21
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsp: ENSP00000309953.6:p.Asp153AlafsTer21
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsp: ENSP00000435419.1:p.Asp153AlafsTer21
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10490
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14161
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp153AlafsTer21
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-65638064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638064
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638064
    reference: chr 11
allele count: 3
allele frequency: 2.492646692257839e-5
allele num: 120354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.433G>A
  hgvsp: ENSP00000309953.6:p.Gly145Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*245G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1427G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.433G>A
  hgvsp: ENSP00000435963.1:p.Gly145Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.112G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.433G>A
  hgvsp: ENSP00000434151.1:p.Gly145Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.433G>A
  hgvsp: ENSP00000435295.1:p.Gly145Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*245G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.433G>A
  hgvsp: ENSP00000435419.1:p.Gly145Ser
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly145Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

11-65638067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638067
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638067
    reference: chr 11
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.430C>T
  hgvsp: ENSP00000435419.1:p.Pro144Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.430C>T
  hgvsp: ENSP00000435295.1:p.Pro144Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.430C>T
  hgvsp: ENSP00000309953.6:p.Pro144Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.109C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*242C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.430C>T
  hgvsp: ENSP00000435963.1:p.Pro144Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*242C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.430C>T
  hgvsp: ENSP00000434151.1:p.Pro144Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1424C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14245
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7595
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro144Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-65638075-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638075
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638075
    reference: chr 11
allele count: 53
allele frequency: 4.403529470413267e-4
allele num: 120358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.101A>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.422A>T
  hgvsp: ENSP00000309953.6:p.His141Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1416A>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.422A>T
  hgvsp: ENSP00000435295.1:p.His141Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.422A>T
  hgvsp: ENSP00000434151.1:p.His141Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.422A>T
  hgvsp: ENSP00000435419.1:p.His141Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.422A>T
  hgvsp: ENSP00000435963.1:p.His141Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*234A>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*234A>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14903
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His141Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-65638081-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638081
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638081
    reference: chr 11
allele count: 1
allele frequency: 8.311722853913159e-6
allele num: 120312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*228A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.95A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.416A>G
  hgvsp: ENSP00000435963.1:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.416A>G
  hgvsp: ENSP00000435419.1:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.416A>G
  hgvsp: ENSP00000435295.1:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1410A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.416A>G
  hgvsp: ENSP00000434151.1:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.416A>G
  hgvsp: ENSP00000309953.6:p.Asp139Gly
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*228A>G
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp139Gly
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

11-65638083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638083
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638083
    reference: chr 11
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.93G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1408G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.414G>A
  hgvsp: ENST00000527378.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*226G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.414G>A
  hgvsp: ENST00000526624.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.414G>A
  hgvsp: ENST00000307998.6:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.414G>A
  hgvsp: ENST00000531972.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.414G>A
  hgvsp: ENST00000528176.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*226G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln138Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

11-65638091-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638091
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638091
    reference: chr 11
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.406C>G
  hgvsp: ENSP00000435295.1:p.Pro136Ala
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.406C>G
  hgvsp: ENSP00000435419.1:p.Pro136Ala
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1400C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.406C>G
  hgvsp: ENSP00000435963.1:p.Pro136Ala
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.406C>G
  hgvsp: ENSP00000434151.1:p.Pro136Ala
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*218C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.406C>G
  hgvsp: ENSP00000309953.6:p.Pro136Ala
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*218C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.85C>G
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro136Ala
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

11-65638093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638093
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638093
    reference: chr 11
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.404G>A
  hgvsp: ENSP00000434151.1:p.Arg135His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.404G>A
  hgvsp: ENSP00000309953.6:p.Arg135His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.83G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.404G>A
  hgvsp: ENSP00000435963.1:p.Arg135His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1398G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*216G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.404G>A
  hgvsp: ENSP00000435419.1:p.Arg135His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.404G>A
  hgvsp: ENSP00000435295.1:p.Arg135His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*216G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14842
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7563
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg135His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

11-65638094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638094
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638094
    reference: chr 11
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*215C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.403C>T
  hgvsp: ENSP00000309953.6:p.Arg135Cys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.403C>T
  hgvsp: ENSP00000434151.1:p.Arg135Cys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.82C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.403C>T
  hgvsp: ENSP00000435419.1:p.Arg135Cys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*215C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.403C>T
  hgvsp: ENSP00000435963.1:p.Arg135Cys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.403C>T
  hgvsp: ENSP00000435295.1:p.Arg135Cys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1397C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14870
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg135Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/11-65638100-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638100
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638100
    reference: chr 11
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*209G>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.397G>T
  hgvsp: ENSP00000435963.1:p.Asp133Tyr
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.76G>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.397G>T
  hgvsp: ENSP00000435295.1:p.Asp133Tyr
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.397G>T
  hgvsp: ENSP00000309953.6:p.Asp133Tyr
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.397G>T
  hgvsp: ENSP00000435419.1:p.Asp133Tyr
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*209G>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1391G>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.397G>T
  hgvsp: ENSP00000434151.1:p.Asp133Tyr
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp133Tyr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

11-65638100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638100
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638100
    reference: chr 11
allele count: 5
allele frequency: 4.157243581215911e-5
allele num: 120272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.397G>A
  hgvsp: ENSP00000434151.1:p.Asp133Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.397G>A
  hgvsp: ENSP00000435295.1:p.Asp133Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*209G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.76G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1391G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*209G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.397G>A
  hgvsp: ENSP00000309953.6:p.Asp133Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.397G>A
  hgvsp: ENSP00000435963.1:p.Asp133Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.397G>A
  hgvsp: ENSP00000435419.1:p.Asp133Asn
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7748
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp133Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

11-65638101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638101
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638101
    reference: chr 11
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.396C>T
  hgvsp: ENST00000528176.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.396C>T
  hgvsp: ENST00000531972.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.396C>T
  hgvsp: ENST00000307998.6:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1390C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*208C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.396C>T
  hgvsp: ENST00000526624.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*208C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.396C>T
  hgvsp: ENST00000527378.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.75C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His132His
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

11-65638121-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638121
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638121
    reference: chr 11
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.376G>C
  hgvsp: ENSP00000309953.6:p.Glu126Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.376G>C
  hgvsp: ENSP00000435419.1:p.Glu126Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.376G>C
  hgvsp: ENSP00000434151.1:p.Glu126Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.376G>C
  hgvsp: ENSP00000435295.1:p.Glu126Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*188G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1370G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.376G>C
  hgvsp: ENSP00000435963.1:p.Glu126Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.55G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*188G>C
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu126Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

11-65638122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638122
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638122
    reference: chr 11
allele count: 4
allele frequency: 3.32242470555011e-5
allele num: 120394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.375C>T
  hgvsp: ENST00000528176.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.375C>T
  hgvsp: ENST00000531972.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*187C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*187C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1369C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.54C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.375C>T
  hgvsp: ENST00000307998.6:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.375C>T
  hgvsp: ENST00000527378.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.375C>T
  hgvsp: ENST00000526624.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp125Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

11-65638126-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638126
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638126
    reference: chr 11
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.50T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*183T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.371T>C
  hgvsp: ENSP00000309953.6:p.Val124Ala
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*183T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.371T>C
  hgvsp: ENSP00000435963.1:p.Val124Ala
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.371T>C
  hgvsp: ENSP00000434151.1:p.Val124Ala
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.371T>C
  hgvsp: ENSP00000435295.1:p.Val124Ala
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.371T>C
  hgvsp: ENSP00000435419.1:p.Val124Ala
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1365T>C
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val124Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

11-65638129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638129
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638129
    reference: chr 11
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368A>G
  hgvsp: ENSP00000435963.1:p.Asp123Gly
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368A>G
  hgvsp: ENSP00000435295.1:p.Asp123Gly
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368A>G
  hgvsp: ENSP00000434151.1:p.Asp123Gly
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368A>G
  hgvsp: ENSP00000309953.6:p.Asp123Gly
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1362A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368A>G
  hgvsp: ENSP00000435419.1:p.Asp123Gly
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15351
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4866
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp123Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

11-65638130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638130
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638130
    reference: chr 11
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-1G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-1G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-1G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-1G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-1G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-1G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-1G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1361G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-1G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
hgvs: c.368-1G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

11-65638133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638133
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638133
    reference: chr 11
allele count: 212
allele frequency: 1.759394502722082e-3
allele num: 120496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-4G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-4G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-4G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-4G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-4G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-4G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1358G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-4G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-4G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13907
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15301
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11051
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8038
  bin: 6.75e1
  variant carriers: 1
hgvs: c.368-4G>A
num of homozygotes: 1
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-65638134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638134
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638134
    reference: chr 11
allele count: 1
allele frequency: 8.298479718515568e-6
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-5C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-5C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-5C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-5C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-5C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-5C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1357C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-5C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-5C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: c.368-5C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

11-65638140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638140
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638140
    reference: chr 11
allele count: 305
allele frequency: 2.530154463856121e-3
allele num: 120546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-11G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-11G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1351G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-11G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-11G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-11G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-11G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-11G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-11G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13779
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 15285
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

11-65638145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638145
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638145
    reference: chr 11
allele count: 3
allele frequency: 2.488676521825693e-5
allele num: 120546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-16G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-16G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-16G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-16G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1346G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-16G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-16G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-16G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-16G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14369
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

11-65638147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638147
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638147
    reference: chr 11
allele count: 128
allele frequency: 1.06171201061712e-3
allele num: 120560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-18G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-18G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-18G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1344G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-18G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-18G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-18G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-18G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-18G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13641
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15299
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

11-65638150-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638150
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638150
    reference: chr 11
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-21G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-21G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-21G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-21G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-21G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-21G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-21G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-21G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1341G>C
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

11-65638157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638157
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638157
    reference: chr 11
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-28G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-28G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-28G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-28G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-28G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-28G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1334G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-28G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-28G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14384
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

11-65638158-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638158
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638158
    reference: chr 11
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-29A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-29A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-29A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-29A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-29A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-29A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-29A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1333A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-29A>C
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

11-65638167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638167
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638167
    reference: chr 11
allele count: 2
allele frequency: 1.660109235187675e-5
allele num: 120474
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-38C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-38C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1324C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-38C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-38C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-38C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-38C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-38C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-38C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-65638168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638168
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638168
    reference: chr 11
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-39G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-39G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-39G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-39G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-39G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1323G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-39G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-39G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-39G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

11-65638171-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638171
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638171
    reference: chr 11
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-42T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-42T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-42T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-42T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1320T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-42T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-42T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-42T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-42T>C
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14407
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

11-65638181-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638181
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638181
    reference: chr 11
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.368-52T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.368-52T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.47-52T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*180-52T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.368-52T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.368-52T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*180-52T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.1310T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.368-52T>C
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

11-65638577-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638577
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638577
    reference: chr 11
allele count: 1
allele frequency: 8.696710903936131e-6
allele num: 114986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*179+51C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*179+51C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.367+51C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.367+51C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.46+51C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.367+51C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.367+51C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.914C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.367+51C>G
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12173
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

11-65638579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638579
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638579
    reference: chr 11
allele count: 10
allele frequency: 8.712774670221478e-5
allele num: 114774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.46+49G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.367+49G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.367+49G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.912G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*179+49G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.367+49G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.367+49G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*179+49G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.367+49G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13654
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10529
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

11-65638580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638580
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638580
    reference: chr 11
allele count: 3
allele frequency: 2.609376359050187e-5
allele num: 114970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.367+48C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*179+48C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.367+48C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.367+48C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.367+48C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.367+48C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.46+48C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.911C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*179+48C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10690
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

11-65638584-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638584
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638584
    reference: chr 11
allele count: 167
allele frequency: 1.448521120652268e-3
allele num: 115290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*179+44C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*179+44C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.907C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.367+44C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.46+44C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.367+44C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.367+44C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.367+44C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.367+44C>G
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 1.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-65638586-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638586
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638586
    reference: chr 11
allele count: 1
allele frequency: 8.674531575294935e-6
allele num: 115280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*179+42A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*179+42A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.46+42A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.367+42A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.367+42A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.905A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.367+42A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.367+42A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.367+42A>C
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/11-65638603-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638603
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638603
    reference: chr 11
allele count: 1
allele frequency: 8.492424757116652e-6
allele num: 117752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.888T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.367+25T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.367+25T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*179+25T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*179+25T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.367+25T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.367+25T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.367+25T>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.46+25T>G
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

11-65638614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638614
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638614
    reference: chr 11
allele count: 1
allele frequency: 8.390106386548982e-6
allele num: 119188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.367+14G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.367+14G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*179+14G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.367+14G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.46+14G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.367+14G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.877G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*179+14G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.367+14G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

11-65638632-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638632
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638632
    reference: chr 11
allele count: 14
allele frequency: 1.162829329878069e-4
allele num: 120396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.42T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*175T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.363T>C
  hgvsp: ENST00000528176.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.363T>C
  hgvsp: ENST00000307998.6:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.363T>C
  hgvsp: ENST00000526624.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.859T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.363T>C
  hgvsp: ENST00000527378.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.363T>C
  hgvsp: ENST00000531972.1:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*175T>C
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26653
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys121Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

11-65638640-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638640
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638640
    reference: chr 11
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*167G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.355G>C
  hgvsp: ENSP00000435963.1:p.Asp119His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.355G>C
  hgvsp: ENSP00000309953.6:p.Asp119His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.355G>C
  hgvsp: ENSP00000435419.1:p.Asp119His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*167G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.355G>C
  hgvsp: ENSP00000435295.1:p.Asp119His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.851G>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.355G>C
  hgvsp: ENSP00000434151.1:p.Asp119His
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.34G>C
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30825
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp119His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-65638642-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638642
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638642
    reference: chr 11
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.849A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.353A>G
  hgvsp: ENSP00000435963.1:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.353A>G
  hgvsp: ENSP00000434151.1:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*165A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.353A>G
  hgvsp: ENSP00000435419.1:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.353A>G
  hgvsp: ENSP00000435295.1:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*165A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.353A>G
  hgvsp: ENSP00000309953.6:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.32A>G
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln118Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

11-65638646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638646
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638646
    reference: chr 11
allele count: 3
allele frequency: 2.482909307599358e-5
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.28G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*161G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.349G>A
  hgvsp: ENSP00000434151.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.349G>A
  hgvsp: ENSP00000435295.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.845G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.349G>A
  hgvsp: ENSP00000435419.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.349G>A
  hgvsp: ENSP00000435963.1:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.349G>A
  hgvsp: ENSP00000309953.6:p.Asp117Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*161G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp117Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

11-65638647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638647
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638647
    reference: chr 11
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.844C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*160C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.348C>T
  hgvsp: ENST00000307998.6:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.348C>T
  hgvsp: ENST00000526624.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.27C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.348C>T
  hgvsp: ENST00000528176.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.348C>T
  hgvsp: ENST00000531972.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.348C>T
  hgvsp: ENST00000527378.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp116Asp
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: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

11-65638647-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638647
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638647
    reference: chr 11
allele count: 8
allele frequency: 6.620105259673629e-5
allele num: 120844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*160C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.348C>A
  hgvsp: ENSP00000435419.1:p.Asp116Glu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*160C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.348C>A
  hgvsp: ENSP00000435295.1:p.Asp116Glu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.348C>A
  hgvsp: ENSP00000309953.6:p.Asp116Glu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.348C>A
  hgvsp: ENSP00000434151.1:p.Asp116Glu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.27C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.844C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.348C>A
  hgvsp: ENSP00000435963.1:p.Asp116Glu
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp116Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-65638649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638649
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638649
    reference: chr 11
allele count: 5
allele frequency: 4.136538875192349e-5
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.346G>A
  hgvsp: ENSP00000435419.1:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.346G>A
  hgvsp: ENSP00000435963.1:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.346G>A
  hgvsp: ENSP00000435295.1:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.346G>A
  hgvsp: ENSP00000434151.1:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*158G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.25G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.346G>A
  hgvsp: ENSP00000309953.6:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.842G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*158G>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp116Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

11-65638650-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638650
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638650
    reference: chr 11
allele count: 9
allele frequency: 7.444168734491315e-5
allele num: 120900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.345C>G
  hgvsp: ENST00000531972.1:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.24C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.345C>G
  hgvsp: ENST00000307998.6:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.345C>G
  hgvsp: ENST00000527378.1:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*157C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*157C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.345C>G
  hgvsp: ENST00000526624.1:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.841C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.345C>G
  hgvsp: ENST00000528176.1:c.345C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8992
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Pro115Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

11-65638656-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638656
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638656
    reference: chr 11
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*151T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.339T>C
  hgvsp: ENST00000527378.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.18T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*151T>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.339T>C
  hgvsp: ENST00000526624.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.339T>C
  hgvsp: ENST00000528176.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.339T>C
  hgvsp: ENST00000307998.6:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.339T>C
  hgvsp: ENST00000531972.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.835T>C
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr113Tyr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-65638659-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638659
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638659
    reference: chr 11
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.336C>G
  hgvsp: ENST00000531972.1:c.336C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.336C>G
  hgvsp: ENST00000528176.1:c.336C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.336C>G
  hgvsp: ENST00000307998.6:c.336C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*148C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.336C>G
  hgvsp: ENST00000527378.1:c.336C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.15C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*148C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.336C>G
  hgvsp: ENST00000526624.1:c.336C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.832C>G
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9007
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly112Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

11-65638662-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638662
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638662
    reference: chr 11
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*145A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.333A>G
  hgvsp: ENST00000526624.1:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.12A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.333A>G
  hgvsp: ENST00000531972.1:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.333A>G
  hgvsp: ENST00000307998.6:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.333A>G
  hgvsp: ENST00000528176.1:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.333A>G
  hgvsp: ENST00000527378.1:c.333A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.829A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*145A>G
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7333
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro111Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

11-65638666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638666
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638666
    reference: chr 11
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*141C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.329C>T
  hgvsp: ENSP00000309953.6:p.Pro110Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.329C>T
  hgvsp: ENSP00000435419.1:p.Pro110Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.329C>T
  hgvsp: ENSP00000435295.1:p.Pro110Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.329C>T
  hgvsp: ENSP00000434151.1:p.Pro110Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*141C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000527969
  gene symbol: EFEMP2
  hgvsc: ENST00000527969.1:n.8C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.329C>T
  hgvsp: ENSP00000435963.1:p.Pro110Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.825C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9013
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro110Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-65638674-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638674
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638674
    reference: chr 11
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*133C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.321C>A
  hgvsp: ENSP00000434151.1:p.Asn107Lys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.321C>A
  hgvsp: ENSP00000435419.1:p.Asn107Lys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.321C>A
  hgvsp: ENSP00000309953.6:p.Asn107Lys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.321C>A
  hgvsp: ENSP00000435963.1:p.Asn107Lys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.321C>A
  hgvsp: ENSP00000435295.1:p.Asn107Lys
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.817C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*133C>A
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn107Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

11-65638678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638678
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638678
    reference: chr 11
allele count: 2
allele frequency: 1.650464605786529e-5
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.317C>T
  hgvsp: ENSP00000435295.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.317C>T
  hgvsp: ENSP00000309953.6:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.317C>T
  hgvsp: ENSP00000434151.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.317C>T
  hgvsp: ENSP00000435419.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.813C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.317C>T
  hgvsp: ENSP00000435963.1:p.Pro106Leu
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31035
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro106Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

11-65638679-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638679
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638679
    reference: chr 11
allele count: 5
allele frequency: 4.12609341475491e-5
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.316C>A
  hgvsp: ENSP00000435419.1:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*128C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.316C>A
  hgvsp: ENSP00000434151.1:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.316C>A
  hgvsp: ENSP00000435963.1:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.316C>A
  hgvsp: ENSP00000309953.6:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.812C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*128C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.316C>A
  hgvsp: ENSP00000435295.1:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro106Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

11-65638680-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638680
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638680
    reference: chr 11
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.315C>G
  hgvsp: ENSP00000435419.1:p.His105Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.315C>G
  hgvsp: ENSP00000434151.1:p.His105Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*127C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.315C>G
  hgvsp: ENSP00000435295.1:p.His105Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.315C>G
  hgvsp: ENSP00000435963.1:p.His105Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.315C>G
  hgvsp: ENSP00000309953.6:p.His105Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.811C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*127C>G
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9032
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His105Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

11-65638685-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638685
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638685
    reference: chr 11
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*122C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.310C>G
  hgvsp: ENSP00000434151.1:p.Gln104Glu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.310C>G
  hgvsp: ENSP00000435963.1:p.Gln104Glu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*122C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.806C>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.310C>G
  hgvsp: ENSP00000309953.6:p.Gln104Glu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.310C>G
  hgvsp: ENSP00000435419.1:p.Gln104Glu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.310C>G
  hgvsp: ENSP00000435295.1:p.Gln104Glu
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln104Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

11-65638690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638690
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638690
    reference: chr 11
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*117C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.305C>T
  hgvsp: ENSP00000435295.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*117C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.305C>T
  hgvsp: ENSP00000309953.6:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.305C>T
  hgvsp: ENSP00000435419.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.305C>T
  hgvsp: ENSP00000435963.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.305C>T
  hgvsp: ENSP00000434151.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.801C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro102Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

11-65638691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638691
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638691
    reference: chr 11
allele count: 5
allele frequency: 4.12452774157359e-5
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.304C>T
  hgvsp: ENSP00000435295.1:p.Pro102Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.304C>T
  hgvsp: ENSP00000434151.1:p.Pro102Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.800C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.304C>T
  hgvsp: ENSP00000435963.1:p.Pro102Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.304C>T
  hgvsp: ENSP00000435419.1:p.Pro102Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.304C>T
  hgvsp: ENSP00000309953.6:p.Pro102Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro102Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-65638699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638699
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638699
    reference: chr 11
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.296C>T
  hgvsp: ENSP00000435419.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.296C>T
  hgvsp: ENSP00000434151.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.296C>T
  hgvsp: ENSP00000309953.6:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.792C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*108C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.296C>T
  hgvsp: ENSP00000435295.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.296C>T
  hgvsp: ENSP00000435963.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*108C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro99Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

11-65638702-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638702
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638702
    reference: chr 11
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.293C>A
  hgvsp: ENSP00000435419.1:p.Pro98Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.789C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.293C>A
  hgvsp: ENSP00000435963.1:p.Pro98Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.293C>A
  hgvsp: ENSP00000434151.1:p.Pro98Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*105C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.293C>A
  hgvsp: ENSP00000309953.6:p.Pro98Gln
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*105C>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.293C>A
  hgvsp: ENSP00000435295.1:p.Pro98Gln
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro98Gln
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: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

11-65638704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638704
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638704
    reference: chr 11
allele count: 2
allele frequency: 1.651718613217052e-5
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.291G>A
  hgvsp: ENST00000528176.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.291G>A
  hgvsp: ENST00000531972.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.291G>A
  hgvsp: ENST00000526624.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.787G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.291G>A
  hgvsp: ENST00000527378.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.291G>A
  hgvsp: ENST00000307998.6:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro97Pro
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

11-65638705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638705
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638705
    reference: chr 11
allele count: 2
allele frequency: 1.651336757104876e-5
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*102C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.290C>T
  hgvsp: ENSP00000434151.1:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.290C>T
  hgvsp: ENSP00000309953.6:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*102C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.786C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.290C>T
  hgvsp: ENSP00000435419.1:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.290C>T
  hgvsp: ENSP00000435295.1:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.290C>T
  hgvsp: ENSP00000435963.1:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro97Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

11-65638709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638709
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638709
    reference: chr 11
allele count: 3
allele frequency: 2.474308430793593e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.286C>T
  hgvsp: ENSP00000434151.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.286C>T
  hgvsp: ENSP00000309953.6:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.286C>T
  hgvsp: ENSP00000435295.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.782C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.286C>T
  hgvsp: ENSP00000435963.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.286C>T
  hgvsp: ENSP00000435419.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*98C>T
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*98C>T
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro96Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-65638710-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638710
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638710
    reference: chr 11
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.285A>G
  hgvsp: ENST00000526624.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.781A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*97A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.285A>G
  hgvsp: ENST00000531972.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.285A>G
  hgvsp: ENST00000528176.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*97A>G
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.285A>G
  hgvsp: ENST00000307998.6:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.285A>G
  hgvsp: ENST00000527378.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly95Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

11-65638710-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65638710
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 65638710
    reference: chr 11
allele count: 51
allele frequency: 4.217315802530389e-4
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000309953
  ensembl transcript: ENST00000307998
  gene symbol: EFEMP2
  hgvsc: ENST00000307998.6:c.285A>C
  hgvsp: ENST00000307998.6:c.285A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435823
  ensembl transcript: ENST00000533347
  gene symbol: EFEMP2
  hgvsc: ENST00000533347.1:c.*97A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172638
  ensembl transcript: ENST00000531005
  gene symbol: EFEMP2
  hgvsc: ENST00000531005.1:n.781A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435295
  ensembl transcript: ENST00000531972
  gene symbol: EFEMP2
  hgvsc: ENST00000531972.1:c.285A>C
  hgvsp: ENST00000531972.1:c.285A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435419
  ensembl transcript: ENST00000526624
  gene symbol: EFEMP2
  hgvsc: ENST00000526624.1:c.285A>C
  hgvsp: ENST00000526624.1:c.285A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000435963
  ensembl transcript: ENST00000527378
  gene symbol: EFEMP2
  hgvsc: ENST00000527378.1:c.285A>C
  hgvsp: ENST00000527378.1:c.285A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000437238
  ensembl transcript: ENST00000530850
  gene symbol: EFEMP2
  hgvsc: ENST00000530850.1:c.*97A>C
  variant of: http://identifiers.org/hgnc/3219
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172638
  ensembl protein: ENSP00000434151
  ensembl transcript: ENST00000528176
  gene symbol: EFEMP2
  hgvsc: ENST00000528176.1:c.285A>C
  hgvsp: ENST00000528176.1:c.285A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3219
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9083
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 5
hgvs: p.Gly95Gly
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 7166
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14120
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66018
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.715356458079135e-5
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.539e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.028e0

DP
type: SiteQuality
SIO_000300: 2.228985e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 4.659e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

GenotypeQuality
all individuals: 613
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18856
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14121
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.340000000000001e-2

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.541e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.585e0

DP
type: SiteQuality
SIO_000300: 2.231985e6

QD
type: SiteQuality
SIO_000300: 1.256e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

GenotypeQuality
all individuals: 3670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18857
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14121
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 427
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3573
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027825718351652e-5
allele num: 66054
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.23683e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.592e1

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

GenotypeQuality
all individuals: 541
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7320
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14130
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.948178453146308e-4
allele num: 10266
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

DP
type: SiteQuality
SIO_000300: 2.238313e6

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

GenotypeQuality
all individuals: 1841
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14130
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 211
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215214485356665e-4
allele num: 16458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66090
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 2.238313e6

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
all individuals: 14133
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 523
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2315
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 3745
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66132
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.247e0

VQSLOD
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SIO_000300: -3.296e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 6.84e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.240977e6

FS
type: SiteQuality
SIO_000300: 2.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511852926947267e-5
allele num: 66144
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.212e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.064e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

FS
type: SiteQuality
SIO_000300: 1.922e0

DP
type: SiteQuality
SIO_000300: 2.243748e6

VQSLOD
type: SiteQuality
SIO_000300: -8.923e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.741856819369448e-4
allele num: 11482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.172e0

DP
type: SiteQuality
SIO_000300: 2.247244e6

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.606e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019141356198297e-5
allele num: 66244
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.892e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 5.505e1

QD
type: SiteQuality
SIO_000300: 2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.258924e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.211e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 163
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.529532552240609e-5
allele num: 66232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.407e-1

FS
type: SiteQuality
SIO_000300: 1.1522e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

QD
type: SiteQuality
SIO_000300: 1.595e1

DP
type: SiteQuality
SIO_000300: 2.260236e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

African
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: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0371e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.79e-1

DP
type: SiteQuality
SIO_000300: 2.259991e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

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: 53

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 51
allele frequency: 7.701600724856539e-4
allele num: 66220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.741856819369448e-4
allele num: 11482
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.62e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.262796e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 546
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

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

Latino
type: Population
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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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
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

DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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SIO_000300: 5.847e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.285e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
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SIO_000300: 8.17e0

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66158
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
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SIO_000300: 7.42e0

BaseQRankSum
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SIO_000300: -2.789e0

ClippingRankSum
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.078e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513592056668887e-5
allele num: 66068
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.259928e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 9.89e-1

InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 8.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.879e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512493193780628e-5
allele num: 66116
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.717e1

QD
type: SiteQuality
SIO_000300: 1.09e1

VQSLOD
type: SiteQuality
SIO_000300: -1.183e0

DP
type: SiteQuality
SIO_000300: 2.26012e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66126
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.028e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.26205e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.56132232404803e-5
allele num: 66126
num of homozygotes: 0

Other
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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African
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allele num: 10236
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Other
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allele frequency: 0.0e0
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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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allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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East Asian
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Latino
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Other
type: Population
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African
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.535010279356633e-5
allele num: 66152
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.276016e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
all individuals: 19035
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14252
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 735
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
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GenotypeQuality
all individuals: 2411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4864
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4177
bin: 7.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.277595e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.085e0

QD
type: SiteQuality
SIO_000300: 1.256e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 19101
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14252
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 2416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 1.483e0

QD
type: SiteQuality
SIO_000300: 1.274e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 2.278148e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

GenotypeQuality
all individuals: 4868
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1990
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variant carriers: 0

GenotypeQuality
all individuals: 19050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4182
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variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
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GenotypeQuality
all individuals: 8054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66182
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.74089226573154e-5
allele num: 10266
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.39e-1

FS
type: SiteQuality
SIO_000300: 6.612e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.004e0

VQSLOD
type: SiteQuality
SIO_000300: -6.365e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

DP
type: SiteQuality
SIO_000300: 2.278348e6

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3883
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4857
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variant carriers: 0

GenotypeQuality
all individuals: 14416
bin: 9.75e1
variant carriers: 209

GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
all individuals: 4170
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variant carriers: 0

GenotypeQuality
all individuals: 18996
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variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2406
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.69941484447182e-4
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.735202492211838e-4
allele num: 10272
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 194
allele frequency: 2.93095633781538e-3
allele num: 66190
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.169e1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

FS
type: SiteQuality
SIO_000300: 3.241e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 2.283252e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

GenotypeQuality
all individuals: 4186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 19124
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 174
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 247
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GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 14315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2414
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4875
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510619656182966e-5
allele num: 66198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.67e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

FS
type: SiteQuality
SIO_000300: 1.094e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

DP
type: SiteQuality
SIO_000300: 2.281239e6

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18858
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3876
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14543
bin: 9.75e1
variant carriers: 299

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.534683855125844e-4
allele num: 6516
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.070663811563169e-3
allele num: 10274
num of homozygotes: 0

Latino
type: Population
allele count: 39
allele frequency: 3.384829022739108e-3
allele num: 11522
num of homozygotes: 0

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

South Asian
type: Population
allele count: 8
allele frequency: 4.847897224578839e-4
allele num: 16502
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 243
allele frequency: 3.670029601884855e-3
allele num: 66212
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.378378378378379e-3
allele num: 888
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.285893e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.013e1

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 4.284e0

GenotypeQuality
all individuals: 230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4887
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 8057
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GenotypeQuality
all individuals: 18886
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 3896
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GenotypeQuality
all individuals: 317
bin: 3.25e1
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GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.531858968548899e-5
allele num: 66198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.504e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 7.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.553e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.28128e6

MQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

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

GenotypeQuality
all individuals: 284
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3891
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14462
bin: 9.75e1
variant carriers: 128

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18738
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4866
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 115
allele frequency: 1.118677042801556e-2
allele num: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.551957467375543e-5
allele num: 66208
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.074279763970844e-4
allele num: 11524
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 2.283086e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.681e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

FS
type: SiteQuality
SIO_000300: 4.421e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

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

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

GenotypeQuality
all individuals: 35
bin: 7.5e0
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GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4881
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8026
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.192e1

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

DP
type: SiteQuality
SIO_000300: 2.281022e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

FS
type: SiteQuality
SIO_000300: 1.1504e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.354e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 351
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.654e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.279016e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.972e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.708e1

GenotypeQuality
all individuals: 4188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4882
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66200
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.517e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.278968e6

MQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.857e0

GenotypeQuality
all individuals: 696
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 17815
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 14388
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variant carriers: 2

GenotypeQuality
all individuals: 389
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GenotypeQuality
all individuals: 3887
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variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

DP
type: SiteQuality
SIO_000300: 2.277452e6

FS
type: SiteQuality
SIO_000300: 2.095e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e0

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
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GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14407
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.893e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

FS
type: SiteQuality
SIO_000300: 3.368e0

QD
type: SiteQuality
SIO_000300: 8.93e0

VQSLOD
type: SiteQuality
SIO_000300: -9.503e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.275425e6

GenotypeQuality
all individuals: 626
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4162
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
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GenotypeQuality
all individuals: 3907
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variant carriers: 0

GenotypeQuality
all individuals: 2003
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 7833
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 192
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GenotypeQuality
all individuals: 4892
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variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 2.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.274226e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 2017
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14416
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4936
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e0

DP
type: SiteQuality
SIO_000300: 2.275337e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 9.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.639e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
all individuals: 1819
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5080
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variant carriers: 0

GenotypeQuality
all individuals: 259
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variant carriers: 0

GenotypeQuality
all individuals: 2183
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8644
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581377696248972e-5
allele num: 63236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.492e0

VQSLOD
type: SiteQuality
SIO_000300: -1.442e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.615821e6

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.878e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e0

GenotypeQuality
all individuals: 2077
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8647
bin: 9.75e1
variant carriers: 10

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.853453601878166e-4
allele num: 16186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.211495946941784e-5
allele num: 10856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.921419518377693e-5
allele num: 63120
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.17096018735363e-3
allele num: 854
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.621054e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.412e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

FS
type: SiteQuality
SIO_000300: 1.988e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

GenotypeQuality
all individuals: 3152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1812
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581377696248972e-5
allele num: 63236
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.178178672927221e-5
allele num: 16186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.186110600771634e-5
allele num: 10886
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.628262e6

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.416e1

FS
type: SiteQuality
SIO_000300: 4.902e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

GenotypeQuality
all individuals: 235
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 162

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3000
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variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 4.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.15308213778969e-5
allele num: 63430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.582951420714941e-4
allele num: 10910
num of homozygotes: 0

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

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

African
type: Population
allele count: 160
allele frequency: 1.621073961499494e-2
allele num: 9870
num of homozygotes: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.988e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

DP
type: SiteQuality
SIO_000300: 1.653132e6

QD
type: SiteQuality
SIO_000300: 1.53e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 730
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57743635044326e-5
allele num: 63394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 1.663254e6

MQRankSum
type: SiteQuality
SIO_000300: -1.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

GenotypeQuality
all individuals: 6584
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 722
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GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64762
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.888888888888889e-5
allele num: 11250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.864e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.805e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.286e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.770005e6

GenotypeQuality
all individuals: 8842
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2825
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 275
bin: 3.75e1
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GenotypeQuality
all individuals: 449
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65586
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.771929824561403e-5
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.548e-1

DP
type: SiteQuality
SIO_000300: 1.808066e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.59e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.341e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8946
bin: 9.75e1
variant carriers: 14

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.962738170728025e-4
allele num: 66234
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.269e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

FS
type: SiteQuality
SIO_000300: 3.182e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 1.83613e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
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bin: 2.5e0
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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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

DP
type: SiteQuality
SIO_000300: 1.841554e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8962
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

BaseQRankSum
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FS
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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SIO_000300: -8.01e-1

MQRankSum
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SIO_000300: 8.2e-1

MQ
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SIO_000300: 6.0e1

DP
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QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 8636
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10336
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
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European (Non-Finnish)
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allele frequency: 4.514672686230248e-5
allele num: 66450
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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ReadPosRankSum
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SIO_000300: 4.4e-1

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

South Asian
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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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European (Non-Finnish)
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allele frequency: 1.504664459825459e-5
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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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East Asian
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -3.5e-1

MQ
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InbreedingCoeff
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QD
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 8634
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.065857885615251e-4
allele num: 11540
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
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SIO_000300: 1.845332e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 2.95e-1

BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
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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: 3.009147809340395e-5
allele num: 66464
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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 count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 2.406e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.846493e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.126e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.354075768061866e-4
allele num: 66466
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66502
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Latino
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Other
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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South Asian
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Other
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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FS
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.851171e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 1.4648e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.801e0

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.458e1

GenotypeQuality
all individuals: 3004
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30974
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 3.553e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.248e0

QD
type: SiteQuality
SIO_000300: 1.358e1

DP
type: SiteQuality
SIO_000300: 1.852036e6

GenotypeQuality
all individuals: 3898
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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: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

FS
type: SiteQuality
SIO_000300: 1.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.142e1

DP
type: SiteQuality
SIO_000300: 1.853075e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.355e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.853873e6

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.46e0

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 9031
bin: 9.75e1
variant carriers: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506940688660537e-5
allele num: 66564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.031221582297666e-4
allele num: 6598
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.854109e6

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.687e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3905
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variant carriers: 0

GenotypeQuality
all individuals: 3006
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 5.351e0

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

DP
type: SiteQuality
SIO_000300: 1.854242e6

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.854948e6

FS
type: SiteQuality
SIO_000300: 8.44e-1

QD
type: SiteQuality
SIO_000300: 2.69e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.277e0

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.294e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.867e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.687e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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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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variant carriers: 0

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: 7339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.571e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

QD
type: SiteQuality
SIO_000300: 1.361e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.082e0

DP
type: SiteQuality
SIO_000300: 1.856735e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.44e0

VQSLOD
type: SiteQuality
SIO_000300: -8.093e-1

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

GenotypeQuality
all individuals: 30951
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9058
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 116
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

FS
type: SiteQuality
SIO_000300: 2.837e0

DP
type: SiteQuality
SIO_000300: 1.856728e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.897e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.116e1

GenotypeQuality
all individuals: 3016
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3003
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9025
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007428348019608e-5
allele num: 66502
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.86607e6

QD
type: SiteQuality
SIO_000300: 1.016e1

MQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.218e0

FS
type: SiteQuality
SIO_000300: 1.5508e1

VQSLOD
type: SiteQuality
SIO_000300: -2.202e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.051e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

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

GenotypeQuality
all individuals: 7343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30927
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9030
bin: 9.75e1
variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: -2.056e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

QD
type: SiteQuality
SIO_000300: 2.568e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 1.867145e6

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

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

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7349
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30919
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9107
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504369238161016e-5
allele num: 66602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.216e1

DP
type: SiteQuality
SIO_000300: 1.863989e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2984
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9083
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.32737e2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e0

DP
type: SiteQuality
SIO_000300: 1.898999e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.558e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.128e0

GenotypeQuality
all individuals: 2978
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1647
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2984
bin: 8.25e1
variant carriers: 1