16-3306364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306364
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306364
    reference: chr 16
allele count: 8
allele frequency: 6.672449456195369e-5
allele num: 119896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.224G>A
  hgvsp: ENSP00000460269.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.224G>A
  hgvsp: ENSP00000445079.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.224G>A
  hgvsp: ENSP00000461186.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.224G>A
  hgvsp: ENSP00000219596.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.224G>A
  hgvsp: ENSP00000444615.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.224G>A
  hgvsp: ENSP00000444178.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.224G>A
  hgvsp: ENSP00000339639.4:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.224G>A
  hgvsp: ENSP00000460551.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.224G>A
  hgvsp: ENSP00000458312.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.224G>A
  hgvsp: ENSP00000444471.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.224G>A
  hgvsp: ENSP00000437486.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.224G>A
  hgvsp: ENSP00000438611.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.224G>A
  hgvsp: ENSP00000438711.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg75Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-3306366-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306366
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306366
    reference: chr 16
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.222G>A
  hgvsp: ENST00000536980.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.222G>A
  hgvsp: ENST00000541159.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.222G>A
  hgvsp: ENST00000572244.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.222G>A
  hgvsp: ENST00000536379.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.222G>A
  hgvsp: ENST00000339854.4:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.222G>A
  hgvsp: ENST00000219596.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.222G>A
  hgvsp: ENST00000574583.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.222G>A
  hgvsp: ENST00000539145.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.222G>A
  hgvsp: ENST00000570511.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.222G>A
  hgvsp: ENST00000537682.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.222G>A
  hgvsp: ENST00000542898.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.222G>A
  hgvsp: ENST00000538326.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.222G>A
  hgvsp: ENST00000576315.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu74Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-3306379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306379
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306379
    reference: chr 16
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.209C>T
  hgvsp: ENSP00000444471.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.209C>T
  hgvsp: ENSP00000437486.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.209C>T
  hgvsp: ENSP00000444178.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.209C>T
  hgvsp: ENSP00000444615.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.209C>T
  hgvsp: ENSP00000458312.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.209C>T
  hgvsp: ENSP00000445079.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.209C>T
  hgvsp: ENSP00000438611.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.209C>T
  hgvsp: ENSP00000339639.4:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.209C>T
  hgvsp: ENSP00000460551.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.209C>T
  hgvsp: ENSP00000461186.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.209C>T
  hgvsp: ENSP00000438711.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.209C>T
  hgvsp: ENSP00000460269.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.209C>T
  hgvsp: ENSP00000219596.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr70Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

16-3306381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306381
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306381
    reference: chr 16
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.207C>T
  hgvsp: ENST00000536980.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.207C>T
  hgvsp: ENST00000542898.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.207C>T
  hgvsp: ENST00000572244.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.207C>T
  hgvsp: ENST00000339854.4:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.207C>T
  hgvsp: ENST00000538326.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.207C>T
  hgvsp: ENST00000576315.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.207C>T
  hgvsp: ENST00000541159.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.207C>T
  hgvsp: ENST00000537682.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.207C>T
  hgvsp: ENST00000570511.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.207C>T
  hgvsp: ENST00000219596.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.207C>T
  hgvsp: ENST00000539145.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.207C>T
  hgvsp: ENST00000574583.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.207C>T
  hgvsp: ENST00000536379.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu69Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-3306386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306386
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306386
    reference: chr 16
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.202C>T
  hgvsp: ENSP00000437486.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.202C>T
  hgvsp: ENSP00000458312.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.202C>T
  hgvsp: ENSP00000460551.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.202C>T
  hgvsp: ENSP00000219596.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.202C>T
  hgvsp: ENSP00000438711.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.202C>T
  hgvsp: ENSP00000444615.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.202C>T
  hgvsp: ENSP00000438611.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.202C>T
  hgvsp: ENSP00000461186.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.202C>T
  hgvsp: ENSP00000444178.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.202C>T
  hgvsp: ENSP00000460269.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.202C>T
  hgvsp: ENSP00000444471.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.202C>T
  hgvsp: ENSP00000445079.1:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.202C>T
  hgvsp: ENSP00000339639.4:p.Gln68Ter
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln68Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/16-3306387-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306387
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306387
    reference: chr 16
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.201G>T
  hgvsp: ENST00000570511.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.201G>T
  hgvsp: ENST00000541159.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.201G>T
  hgvsp: ENST00000574583.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.201G>T
  hgvsp: ENST00000536379.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.201G>T
  hgvsp: ENST00000572244.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.201G>T
  hgvsp: ENST00000539145.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.201G>T
  hgvsp: ENST00000339854.4:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.201G>T
  hgvsp: ENST00000537682.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.201G>T
  hgvsp: ENST00000576315.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.201G>T
  hgvsp: ENST00000219596.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.201G>T
  hgvsp: ENST00000538326.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.201G>T
  hgvsp: ENST00000542898.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.201G>T
  hgvsp: ENST00000536980.1:c.201G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val67Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

16-3306390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306390
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306390
    reference: chr 16
allele count: 5
allele frequency: 4.133324515574367e-5
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.198C>T
  hgvsp: ENST00000219596.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.198C>T
  hgvsp: ENST00000539145.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.198C>T
  hgvsp: ENST00000536980.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.198C>T
  hgvsp: ENST00000542898.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.198C>T
  hgvsp: ENST00000339854.4:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.198C>T
  hgvsp: ENST00000572244.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.198C>T
  hgvsp: ENST00000570511.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.198C>T
  hgvsp: ENST00000538326.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.198C>T
  hgvsp: ENST00000574583.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.198C>T
  hgvsp: ENST00000541159.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.198C>T
  hgvsp: ENST00000536379.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.198C>T
  hgvsp: ENST00000576315.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.198C>T
  hgvsp: ENST00000537682.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala66Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-3306392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306392
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306392
    reference: chr 16
allele count: 2
allele frequency: 1.652728655009421e-5
allele num: 121012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.196G>A
  hgvsp: ENSP00000461186.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.196G>A
  hgvsp: ENSP00000460551.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.196G>A
  hgvsp: ENSP00000444615.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.196G>A
  hgvsp: ENSP00000460269.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.196G>A
  hgvsp: ENSP00000438711.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.196G>A
  hgvsp: ENSP00000219596.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.196G>A
  hgvsp: ENSP00000445079.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.196G>A
  hgvsp: ENSP00000444178.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.196G>A
  hgvsp: ENSP00000339639.4:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.196G>A
  hgvsp: ENSP00000444471.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.196G>A
  hgvsp: ENSP00000458312.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.196G>A
  hgvsp: ENSP00000437486.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.196G>A
  hgvsp: ENSP00000438611.1:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala66Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

16-3306393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306393
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306393
    reference: chr 16
allele count: 31
allele frequency: 2.561009864018638e-4
allele num: 121046
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.195C>T
  hgvsp: ENST00000536980.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.195C>T
  hgvsp: ENST00000539145.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.195C>T
  hgvsp: ENST00000536379.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.195C>T
  hgvsp: ENST00000570511.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.195C>T
  hgvsp: ENST00000339854.4:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.195C>T
  hgvsp: ENST00000576315.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.195C>T
  hgvsp: ENST00000219596.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.195C>T
  hgvsp: ENST00000574583.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.195C>T
  hgvsp: ENST00000542898.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.195C>T
  hgvsp: ENST00000541159.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.195C>T
  hgvsp: ENST00000572244.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.195C>T
  hgvsp: ENST00000537682.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.195C>T
  hgvsp: ENST00000538326.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr65Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

16-3306396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306396
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306396
    reference: chr 16
allele count: 24
allele frequency: 1.981865926770054e-4
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.192G>A
  hgvsp: ENST00000536379.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.192G>A
  hgvsp: ENST00000539145.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.192G>A
  hgvsp: ENST00000542898.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.192G>A
  hgvsp: ENST00000572244.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.192G>A
  hgvsp: ENST00000219596.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.192G>A
  hgvsp: ENST00000339854.4:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.192G>A
  hgvsp: ENST00000536980.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.192G>A
  hgvsp: ENST00000541159.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.192G>A
  hgvsp: ENST00000570511.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.192G>A
  hgvsp: ENST00000576315.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.192G>A
  hgvsp: ENST00000537682.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.192G>A
  hgvsp: ENST00000538326.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.192G>A
  hgvsp: ENST00000574583.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu64Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

16-3306402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306402
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306402
    reference: chr 16
allele count: 4
allele frequency: 3.301637612255679e-5
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.186G>A
  hgvsp: ENST00000537682.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.186G>A
  hgvsp: ENST00000536379.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.186G>A
  hgvsp: ENST00000541159.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.186G>A
  hgvsp: ENST00000536980.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.186G>A
  hgvsp: ENST00000339854.4:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.186G>A
  hgvsp: ENST00000572244.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.186G>A
  hgvsp: ENST00000539145.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.186G>A
  hgvsp: ENST00000219596.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.186G>A
  hgvsp: ENST00000574583.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.186G>A
  hgvsp: ENST00000576315.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.186G>A
  hgvsp: ENST00000570511.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.186G>A
  hgvsp: ENST00000542898.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.186G>A
  hgvsp: ENST00000538326.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly62Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

16-3306405-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306405
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306405
    reference: chr 16
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.183T>C
  hgvsp: ENST00000570511.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.183T>C
  hgvsp: ENST00000538326.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.183T>C
  hgvsp: ENST00000576315.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.183T>C
  hgvsp: ENST00000539145.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.183T>C
  hgvsp: ENST00000219596.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.183T>C
  hgvsp: ENST00000536980.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.183T>C
  hgvsp: ENST00000542898.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.183T>C
  hgvsp: ENST00000536379.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.183T>C
  hgvsp: ENST00000572244.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.183T>C
  hgvsp: ENST00000537682.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.183T>C
  hgvsp: ENST00000574583.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.183T>C
  hgvsp: ENST00000339854.4:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.183T>C
  hgvsp: ENST00000541159.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr61Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

16-3306406-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306406
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306406
    reference: chr 16
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.182A>C
  hgvsp: ENSP00000461186.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.182A>C
  hgvsp: ENSP00000445079.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.182A>C
  hgvsp: ENSP00000458312.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.182A>C
  hgvsp: ENSP00000438711.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.182A>C
  hgvsp: ENSP00000219596.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.182A>C
  hgvsp: ENSP00000444615.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.182A>C
  hgvsp: ENSP00000339639.4:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.182A>C
  hgvsp: ENSP00000460551.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.182A>C
  hgvsp: ENSP00000444471.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.182A>C
  hgvsp: ENSP00000444178.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.182A>C
  hgvsp: ENSP00000438611.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.182A>C
  hgvsp: ENSP00000437486.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.182A>C
  hgvsp: ENSP00000460269.1:p.Tyr61Ser
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr61Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

16-3306407-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306407
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306407
    reference: chr 16
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.181T>C
  hgvsp: ENSP00000219596.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.181T>C
  hgvsp: ENSP00000445079.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.181T>C
  hgvsp: ENSP00000437486.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.181T>C
  hgvsp: ENSP00000460551.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.181T>C
  hgvsp: ENSP00000458312.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.181T>C
  hgvsp: ENSP00000339639.4:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.181T>C
  hgvsp: ENSP00000444178.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.181T>C
  hgvsp: ENSP00000438711.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.181T>C
  hgvsp: ENSP00000444471.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.181T>C
  hgvsp: ENSP00000460269.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.181T>C
  hgvsp: ENSP00000461186.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.181T>C
  hgvsp: ENSP00000438611.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.181T>C
  hgvsp: ENSP00000444615.1:p.Tyr61His
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr61His
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

16-3306408-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306408
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306408
    reference: chr 16
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.180C>A
  hgvsp: ENSP00000444615.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.180C>A
  hgvsp: ENSP00000460551.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.180C>A
  hgvsp: ENSP00000219596.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.180C>A
  hgvsp: ENSP00000444471.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.180C>A
  hgvsp: ENSP00000461186.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.180C>A
  hgvsp: ENSP00000438611.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.180C>A
  hgvsp: ENSP00000445079.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.180C>A
  hgvsp: ENSP00000460269.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.180C>A
  hgvsp: ENSP00000458312.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.180C>A
  hgvsp: ENSP00000437486.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.180C>A
  hgvsp: ENSP00000339639.4:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.180C>A
  hgvsp: ENSP00000444178.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.180C>A
  hgvsp: ENSP00000438711.1:p.Tyr60Ter
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr60Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

16-3306410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306410
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306410
    reference: chr 16
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.178T>C
  hgvsp: ENSP00000219596.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.178T>C
  hgvsp: ENSP00000339639.4:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.178T>C
  hgvsp: ENSP00000444471.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.178T>C
  hgvsp: ENSP00000444178.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.178T>C
  hgvsp: ENSP00000460551.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.178T>C
  hgvsp: ENSP00000458312.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.178T>C
  hgvsp: ENSP00000438711.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.178T>C
  hgvsp: ENSP00000461186.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.178T>C
  hgvsp: ENSP00000437486.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.178T>C
  hgvsp: ENSP00000460269.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.178T>C
  hgvsp: ENSP00000438611.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.178T>C
  hgvsp: ENSP00000445079.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.178T>C
  hgvsp: ENSP00000444615.1:p.Tyr60His
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr60His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-3306410-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306410
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306410
    reference: chr 16
allele count: 2
allele frequency: 1.649892756970797e-5
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.178T>A
  hgvsp: ENSP00000461186.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.178T>A
  hgvsp: ENSP00000219596.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.178T>A
  hgvsp: ENSP00000339639.4:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.178T>A
  hgvsp: ENSP00000444471.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.178T>A
  hgvsp: ENSP00000445079.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.178T>A
  hgvsp: ENSP00000437486.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.178T>A
  hgvsp: ENSP00000444178.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.178T>A
  hgvsp: ENSP00000444615.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.178T>A
  hgvsp: ENSP00000460551.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.178T>A
  hgvsp: ENSP00000460269.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.178T>A
  hgvsp: ENSP00000438711.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.178T>A
  hgvsp: ENSP00000438611.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.178T>A
  hgvsp: ENSP00000458312.1:p.Tyr60Asn
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr60Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-3306416-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306416
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306416
    reference: chr 16
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.172G>T
  hgvsp: ENSP00000458312.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.172G>T
  hgvsp: ENSP00000460551.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.172G>T
  hgvsp: ENSP00000444615.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.172G>T
  hgvsp: ENSP00000438611.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.172G>T
  hgvsp: ENSP00000437486.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.172G>T
  hgvsp: ENSP00000339639.4:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.172G>T
  hgvsp: ENSP00000445079.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.172G>T
  hgvsp: ENSP00000219596.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.172G>T
  hgvsp: ENSP00000438711.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.172G>T
  hgvsp: ENSP00000460269.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.172G>T
  hgvsp: ENSP00000444471.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.172G>T
  hgvsp: ENSP00000444178.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.172G>T
  hgvsp: ENSP00000461186.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val58Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

16-3306424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306424
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306424
    reference: chr 16
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.164C>T
  hgvsp: ENSP00000460269.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.164C>T
  hgvsp: ENSP00000460551.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.164C>T
  hgvsp: ENSP00000444471.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.164C>T
  hgvsp: ENSP00000461186.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.164C>T
  hgvsp: ENSP00000219596.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.164C>T
  hgvsp: ENSP00000445079.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.164C>T
  hgvsp: ENSP00000438711.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.164C>T
  hgvsp: ENSP00000438611.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.164C>T
  hgvsp: ENSP00000339639.4:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.164C>T
  hgvsp: ENSP00000444615.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.164C>T
  hgvsp: ENSP00000458312.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.164C>T
  hgvsp: ENSP00000444178.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.164C>T
  hgvsp: ENSP00000437486.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr55Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

16-3306424-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306424
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306424
    reference: chr 16
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.164C>A
  hgvsp: ENSP00000444471.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.164C>A
  hgvsp: ENSP00000219596.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.164C>A
  hgvsp: ENSP00000461186.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.164C>A
  hgvsp: ENSP00000460551.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.164C>A
  hgvsp: ENSP00000444615.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.164C>A
  hgvsp: ENSP00000437486.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.164C>A
  hgvsp: ENSP00000438711.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.164C>A
  hgvsp: ENSP00000445079.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.164C>A
  hgvsp: ENSP00000458312.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.164C>A
  hgvsp: ENSP00000444178.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.164C>A
  hgvsp: ENSP00000438611.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.164C>A
  hgvsp: ENSP00000339639.4:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.164C>A
  hgvsp: ENSP00000460269.1:p.Thr55Asn
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr55Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-3306438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306438
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306438
    reference: chr 16
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.150G>A
  hgvsp: ENST00000219596.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.150G>A
  hgvsp: ENST00000539145.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.150G>A
  hgvsp: ENST00000542898.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.150G>A
  hgvsp: ENST00000572244.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.150G>A
  hgvsp: ENST00000339854.4:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.150G>A
  hgvsp: ENST00000570511.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.150G>A
  hgvsp: ENST00000576315.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.150G>A
  hgvsp: ENST00000536980.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.150G>A
  hgvsp: ENST00000536379.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.150G>A
  hgvsp: ENST00000537682.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.150G>A
  hgvsp: ENST00000541159.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.150G>A
  hgvsp: ENST00000538326.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.150G>A
  hgvsp: ENST00000574583.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro50Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

16-3306439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306439
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306439
    reference: chr 16
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.149C>T
  hgvsp: ENSP00000460269.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.149C>T
  hgvsp: ENSP00000444178.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.149C>T
  hgvsp: ENSP00000458312.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.149C>T
  hgvsp: ENSP00000444471.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.149C>T
  hgvsp: ENSP00000438711.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.149C>T
  hgvsp: ENSP00000438611.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.149C>T
  hgvsp: ENSP00000445079.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.149C>T
  hgvsp: ENSP00000339639.4:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.149C>T
  hgvsp: ENSP00000219596.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.149C>T
  hgvsp: ENSP00000460551.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.149C>T
  hgvsp: ENSP00000437486.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.149C>T
  hgvsp: ENSP00000444615.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.149C>T
  hgvsp: ENSP00000461186.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro50Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

16-3306448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306448
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306448
    reference: chr 16
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.140G>A
  hgvsp: ENSP00000461186.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.140G>A
  hgvsp: ENSP00000444615.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.140G>A
  hgvsp: ENSP00000460269.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.140G>A
  hgvsp: ENSP00000438611.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.140G>A
  hgvsp: ENSP00000445079.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.140G>A
  hgvsp: ENSP00000460551.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.140G>A
  hgvsp: ENSP00000339639.4:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.140G>A
  hgvsp: ENSP00000438711.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.140G>A
  hgvsp: ENSP00000437486.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.140G>A
  hgvsp: ENSP00000219596.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.140G>A
  hgvsp: ENSP00000444178.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.140G>A
  hgvsp: ENSP00000444471.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.140G>A
  hgvsp: ENSP00000458312.1:p.Arg47Lys
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg47Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

16-3306451-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306451
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306451
    reference: chr 16
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.137A>G
  hgvsp: ENSP00000458312.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.137A>G
  hgvsp: ENSP00000444471.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.137A>G
  hgvsp: ENSP00000219596.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.137A>G
  hgvsp: ENSP00000339639.4:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.137A>G
  hgvsp: ENSP00000445079.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.137A>G
  hgvsp: ENSP00000460269.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.137A>G
  hgvsp: ENSP00000437486.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.137A>G
  hgvsp: ENSP00000438611.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.137A>G
  hgvsp: ENSP00000461186.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.137A>G
  hgvsp: ENSP00000444615.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.137A>G
  hgvsp: ENSP00000438711.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.137A>G
  hgvsp: ENSP00000460551.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.137A>G
  hgvsp: ENSP00000444178.1:p.Gln46Arg
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln46Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-3306460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306460
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306460
    reference: chr 16
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.128G>A
  hgvsp: ENSP00000458312.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.128G>A
  hgvsp: ENSP00000444615.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.128G>A
  hgvsp: ENSP00000444471.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.128G>A
  hgvsp: ENSP00000461186.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.128G>A
  hgvsp: ENSP00000219596.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.128G>A
  hgvsp: ENSP00000460551.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.128G>A
  hgvsp: ENSP00000438711.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.128G>A
  hgvsp: ENSP00000437486.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.128G>A
  hgvsp: ENSP00000339639.4:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.128G>A
  hgvsp: ENSP00000445079.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.128G>A
  hgvsp: ENSP00000460269.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.128G>A
  hgvsp: ENSP00000444178.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.128G>A
  hgvsp: ENSP00000438611.1:p.Ser43Asn
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Ser43Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

16-3306463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306463
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306463
    reference: chr 16
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.125G>A
  hgvsp: ENSP00000444178.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.125G>A
  hgvsp: ENSP00000219596.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.125G>A
  hgvsp: ENSP00000438611.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.125G>A
  hgvsp: ENSP00000445079.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.125G>A
  hgvsp: ENSP00000444471.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.125G>A
  hgvsp: ENSP00000461186.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.125G>A
  hgvsp: ENSP00000460551.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.125G>A
  hgvsp: ENSP00000458312.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.125G>A
  hgvsp: ENSP00000438711.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.125G>A
  hgvsp: ENSP00000339639.4:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.125G>A
  hgvsp: ENSP00000444615.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.125G>A
  hgvsp: ENSP00000437486.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.125G>A
  hgvsp: ENSP00000460269.1:p.Arg42Gln
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg42Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

16-3306464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306464
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306464
    reference: chr 16
allele count: 49
allele frequency: 4.037308021883857e-4
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.124C>T
  hgvsp: ENSP00000438611.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.124C>T
  hgvsp: ENSP00000444615.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.124C>T
  hgvsp: ENSP00000219596.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.124C>T
  hgvsp: ENSP00000437486.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.124C>T
  hgvsp: ENSP00000445079.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.124C>T
  hgvsp: ENSP00000438711.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.124C>T
  hgvsp: ENSP00000339639.4:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.124C>T
  hgvsp: ENSP00000460269.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.124C>T
  hgvsp: ENSP00000460551.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.124C>T
  hgvsp: ENSP00000461186.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.124C>T
  hgvsp: ENSP00000444471.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.124C>T
  hgvsp: ENSP00000444178.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.124C>T
  hgvsp: ENSP00000458312.1:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg42Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

16-3306464-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306464
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306464
    reference: chr 16
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.124C>A
  hgvsp: ENST00000542898.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.124C>A
  hgvsp: ENST00000339854.4:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.124C>A
  hgvsp: ENST00000536379.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.124C>A
  hgvsp: ENST00000539145.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.124C>A
  hgvsp: ENST00000576315.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.124C>A
  hgvsp: ENST00000541159.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.124C>A
  hgvsp: ENST00000570511.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.124C>A
  hgvsp: ENST00000219596.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.124C>A
  hgvsp: ENST00000572244.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.124C>A
  hgvsp: ENST00000538326.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.124C>A
  hgvsp: ENST00000536980.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.124C>A
  hgvsp: ENST00000574583.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.124C>A
  hgvsp: ENST00000537682.1:c.124C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg42Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

16-3306472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306472
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306472
    reference: chr 16
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.116G>A
  hgvsp: ENSP00000339639.4:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.116G>A
  hgvsp: ENSP00000437486.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.116G>A
  hgvsp: ENSP00000444471.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.116G>A
  hgvsp: ENSP00000444615.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.116G>A
  hgvsp: ENSP00000461186.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.116G>A
  hgvsp: ENSP00000219596.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.116G>A
  hgvsp: ENSP00000444178.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.116G>A
  hgvsp: ENSP00000458312.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.116G>A
  hgvsp: ENSP00000445079.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.116G>A
  hgvsp: ENSP00000438611.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.116G>A
  hgvsp: ENSP00000460551.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.116G>A
  hgvsp: ENSP00000438711.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.116G>A
  hgvsp: ENSP00000460269.1:p.Arg39Lys
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg39Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-3306480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306480
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306480
    reference: chr 16
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.108G>A
  hgvsp: ENST00000574583.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.108G>A
  hgvsp: ENST00000570511.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.108G>A
  hgvsp: ENST00000539145.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.108G>A
  hgvsp: ENST00000339854.4:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.108G>A
  hgvsp: ENST00000541159.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.108G>A
  hgvsp: ENST00000219596.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.108G>A
  hgvsp: ENST00000537682.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.108G>A
  hgvsp: ENST00000576315.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.108G>A
  hgvsp: ENST00000536379.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.108G>A
  hgvsp: ENST00000536980.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.108G>A
  hgvsp: ENST00000538326.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.108G>A
  hgvsp: ENST00000542898.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.108G>A
  hgvsp: ENST00000572244.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu36Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

16-3306489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306489
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306489
    reference: chr 16
allele count: 6
allele frequency: 4.942990838990312e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.99G>A
  hgvsp: ENST00000538326.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.99G>A
  hgvsp: ENST00000537682.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.99G>A
  hgvsp: ENST00000219596.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.99G>A
  hgvsp: ENST00000542898.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.99G>A
  hgvsp: ENST00000576315.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.99G>A
  hgvsp: ENST00000574583.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.99G>A
  hgvsp: ENST00000541159.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.99G>A
  hgvsp: ENST00000339854.4:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.99G>A
  hgvsp: ENST00000539145.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.99G>A
  hgvsp: ENST00000536379.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.99G>A
  hgvsp: ENST00000570511.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.99G>A
  hgvsp: ENST00000536980.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.99G>A
  hgvsp: ENST00000572244.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Val33Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/16-3306491-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306491
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306491
    reference: chr 16
allele count: 99
allele frequency: 8.155800504176759e-4
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.97G>T
  hgvsp: ENSP00000461186.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.97G>T
  hgvsp: ENSP00000219596.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.97G>T
  hgvsp: ENSP00000445079.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.97G>T
  hgvsp: ENSP00000444471.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.97G>T
  hgvsp: ENSP00000460269.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.97G>T
  hgvsp: ENSP00000438611.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.97G>T
  hgvsp: ENSP00000438711.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.97G>T
  hgvsp: ENSP00000458312.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.97G>T
  hgvsp: ENSP00000444615.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.97G>T
  hgvsp: ENSP00000460551.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.97G>T
  hgvsp: ENSP00000339639.4:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.97G>T
  hgvsp: ENSP00000437486.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.97G>T
  hgvsp: ENSP00000444178.1:p.Val33Leu
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val33Leu
num of homozygotes: 2
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

16-3306492-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306492
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306492
    reference: chr 16
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.96T>C
  hgvsp: ENST00000538326.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.96T>C
  hgvsp: ENST00000542898.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.96T>C
  hgvsp: ENST00000536980.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.96T>C
  hgvsp: ENST00000219596.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.96T>C
  hgvsp: ENST00000537682.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.96T>C
  hgvsp: ENST00000339854.4:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.96T>C
  hgvsp: ENST00000539145.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.96T>C
  hgvsp: ENST00000570511.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.96T>C
  hgvsp: ENST00000574583.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.96T>C
  hgvsp: ENST00000572244.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.96T>C
  hgvsp: ENST00000541159.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.96T>C
  hgvsp: ENST00000576315.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.96T>C
  hgvsp: ENST00000536379.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser32Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

16-3306493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306493
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306493
    reference: chr 16
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.95G>A
  hgvsp: ENSP00000219596.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.95G>A
  hgvsp: ENSP00000438611.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.95G>A
  hgvsp: ENSP00000444178.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.95G>A
  hgvsp: ENSP00000437486.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.95G>A
  hgvsp: ENSP00000438711.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.95G>A
  hgvsp: ENSP00000460269.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.95G>A
  hgvsp: ENSP00000458312.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.95G>A
  hgvsp: ENSP00000444471.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.95G>A
  hgvsp: ENSP00000445079.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.95G>A
  hgvsp: ENSP00000339639.4:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.95G>A
  hgvsp: ENSP00000461186.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.95G>A
  hgvsp: ENSP00000460551.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.95G>A
  hgvsp: ENSP00000444615.1:p.Ser32Asn
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser32Asn
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

16-3306501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306501
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306501
    reference: chr 16
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.87G>A
  hgvsp: ENST00000537682.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.87G>A
  hgvsp: ENST00000574583.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.87G>A
  hgvsp: ENST00000541159.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.87G>A
  hgvsp: ENST00000539145.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.87G>A
  hgvsp: ENST00000538326.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.87G>A
  hgvsp: ENST00000536980.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.87G>A
  hgvsp: ENST00000570511.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.87G>A
  hgvsp: ENST00000339854.4:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.87G>A
  hgvsp: ENST00000536379.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.87G>A
  hgvsp: ENST00000576315.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.87G>A
  hgvsp: ENST00000219596.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.87G>A
  hgvsp: ENST00000542898.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.87G>A
  hgvsp: ENST00000572244.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln29Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

16-3306506-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306506
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306506
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.82C>G
  hgvsp: ENSP00000444178.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.82C>G
  hgvsp: ENSP00000460269.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.82C>G
  hgvsp: ENSP00000445079.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.82C>G
  hgvsp: ENSP00000461186.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.82C>G
  hgvsp: ENSP00000438711.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.82C>G
  hgvsp: ENSP00000219596.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.82C>G
  hgvsp: ENSP00000444471.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.82C>G
  hgvsp: ENSP00000444615.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.82C>G
  hgvsp: ENSP00000460551.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.82C>G
  hgvsp: ENSP00000339639.4:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.82C>G
  hgvsp: ENSP00000438611.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.82C>G
  hgvsp: ENSP00000437486.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.82C>G
  hgvsp: ENSP00000458312.1:p.Leu28Val
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu28Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

16-3306512-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306512
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306512
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.76T>C
  hgvsp: ENSP00000460269.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.76T>C
  hgvsp: ENSP00000438711.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.76T>C
  hgvsp: ENSP00000437486.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.76T>C
  hgvsp: ENSP00000444178.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.76T>C
  hgvsp: ENSP00000461186.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.76T>C
  hgvsp: ENSP00000438611.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.76T>C
  hgvsp: ENSP00000339639.4:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.76T>C
  hgvsp: ENSP00000460551.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.76T>C
  hgvsp: ENSP00000445079.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.76T>C
  hgvsp: ENSP00000444471.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.76T>C
  hgvsp: ENSP00000458312.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.76T>C
  hgvsp: ENSP00000444615.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.76T>C
  hgvsp: ENSP00000219596.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe26Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-3306519-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306519
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306519
    reference: chr 16
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.69G>C
  hgvsp: ENSP00000438611.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.69G>C
  hgvsp: ENSP00000445079.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.69G>C
  hgvsp: ENSP00000339639.4:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.69G>C
  hgvsp: ENSP00000437486.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.69G>C
  hgvsp: ENSP00000444471.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.69G>C
  hgvsp: ENSP00000219596.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.69G>C
  hgvsp: ENSP00000438711.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.69G>C
  hgvsp: ENSP00000460551.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.69G>C
  hgvsp: ENSP00000444615.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.69G>C
  hgvsp: ENSP00000458312.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.69G>C
  hgvsp: ENSP00000461186.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.69G>C
  hgvsp: ENSP00000460269.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.69G>C
  hgvsp: ENSP00000444178.1:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys23Asn
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

16-3306520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306520
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306520
    reference: chr 16
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.68A>G
  hgvsp: ENSP00000461186.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.68A>G
  hgvsp: ENSP00000219596.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.68A>G
  hgvsp: ENSP00000445079.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.68A>G
  hgvsp: ENSP00000438711.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.68A>G
  hgvsp: ENSP00000460269.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.68A>G
  hgvsp: ENSP00000444178.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.68A>G
  hgvsp: ENSP00000444471.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.68A>G
  hgvsp: ENSP00000339639.4:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.68A>G
  hgvsp: ENSP00000458312.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.68A>G
  hgvsp: ENSP00000460551.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.68A>G
  hgvsp: ENSP00000437486.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.68A>G
  hgvsp: ENSP00000444615.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.68A>G
  hgvsp: ENSP00000438611.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys23Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

16-3306522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306522
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306522
    reference: chr 16
allele count: 8
allele frequency: 6.59098024353672e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.66G>A
  hgvsp: ENST00000572244.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.66G>A
  hgvsp: ENST00000538326.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.66G>A
  hgvsp: ENST00000541159.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.66G>A
  hgvsp: ENST00000339854.4:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.66G>A
  hgvsp: ENST00000219596.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.66G>A
  hgvsp: ENST00000536980.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.66G>A
  hgvsp: ENST00000570511.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.66G>A
  hgvsp: ENST00000539145.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.66G>A
  hgvsp: ENST00000576315.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.66G>A
  hgvsp: ENST00000574583.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.66G>A
  hgvsp: ENST00000537682.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.66G>A
  hgvsp: ENST00000536379.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.66G>A
  hgvsp: ENST00000542898.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu22Glu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS

16-3306522-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306522
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306521
    reference: chr 16
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.65delA
  hgvsp: ENSP00000445079.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.65delA
  hgvsp: ENSP00000219596.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.65delA
  hgvsp: ENSP00000339639.4:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.65delA
  hgvsp: ENSP00000461186.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.65delA
  hgvsp: ENSP00000460551.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.65delA
  hgvsp: ENSP00000458312.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.65delA
  hgvsp: ENSP00000437486.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.65delA
  hgvsp: ENSP00000438611.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.65delA
  hgvsp: ENSP00000444178.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.65delA
  hgvsp: ENSP00000444615.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.65delA
  hgvsp: ENSP00000444471.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.65delA
  hgvsp: ENSP00000438711.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.65delA
  hgvsp: ENSP00000460269.1:p.Glu22GlyfsTer30
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu22GlyfsTer30
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: CT
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-3306524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306524
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306524
    reference: chr 16
allele count: 4
allele frequency: 3.295598727898891e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.64G>A
  hgvsp: ENSP00000444615.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.64G>A
  hgvsp: ENSP00000444178.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.64G>A
  hgvsp: ENSP00000445079.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.64G>A
  hgvsp: ENSP00000458312.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.64G>A
  hgvsp: ENSP00000339639.4:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.64G>A
  hgvsp: ENSP00000219596.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.64G>A
  hgvsp: ENSP00000438711.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.64G>A
  hgvsp: ENSP00000460269.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.64G>A
  hgvsp: ENSP00000444471.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.64G>A
  hgvsp: ENSP00000438611.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.64G>A
  hgvsp: ENSP00000437486.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.64G>A
  hgvsp: ENSP00000460551.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.64G>A
  hgvsp: ENSP00000461186.1:p.Glu22Lys
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu22Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-3306525-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306525
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306526
    reference: chr 16
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.62dupT
  hgvsp: ENSP00000438711.1:p.Glu22ArgfsTer92
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.62dupT
  hgvsp: ENSP00000437486.1:p.Glu22ArgfsTer82
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.62dupT
  hgvsp: ENSP00000461186.1:p.Glu22ArgfsTer96
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.62dupT
  hgvsp: ENSP00000444178.1:p.Glu22ArgfsTer92
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.62dupT
  hgvsp: ENSP00000339639.4:p.Glu22ArgfsTer123
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.62dupT
  hgvsp: ENSP00000219596.1:p.Glu22ArgfsTer82
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.62dupT
  hgvsp: ENSP00000444471.1:p.Glu22ArgfsTer78
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.62dupT
  hgvsp: ENSP00000445079.1:p.Glu22ArgfsTer92
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.62dupT
  hgvsp: ENSP00000438611.1:p.Glu22ArgfsTer82
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.62dupT
  hgvsp: ENSP00000460551.1:p.Glu22ArgfsTer78
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.62dupT
  hgvsp: ENSP00000458312.1:p.Glu22ArgfsTer82
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.62dupT
  hgvsp: ENSP00000444615.1:p.Glu22ArgfsTer82
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.62dupT
  hgvsp: ENSP00000460269.1:p.Glu22ArgfsTer78
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu22ArgfsTer82
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

16-3306528-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306528
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306528
    reference: chr 16
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.60C>G
  hgvsp: ENSP00000460269.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.60C>G
  hgvsp: ENSP00000438711.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.60C>G
  hgvsp: ENSP00000460551.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.60C>G
  hgvsp: ENSP00000444178.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.60C>G
  hgvsp: ENSP00000461186.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.60C>G
  hgvsp: ENSP00000458312.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.60C>G
  hgvsp: ENSP00000445079.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.60C>G
  hgvsp: ENSP00000339639.4:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.60C>G
  hgvsp: ENSP00000444615.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.60C>G
  hgvsp: ENSP00000219596.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.60C>G
  hgvsp: ENSP00000444471.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.60C>G
  hgvsp: ENSP00000437486.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.60C>G
  hgvsp: ENSP00000438611.1:p.Asp20Glu
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp20Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

16-3306532-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306532
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306532
    reference: chr 16
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.56A>G
  hgvsp: ENSP00000438711.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.56A>G
  hgvsp: ENSP00000445079.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.56A>G
  hgvsp: ENSP00000437486.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.56A>G
  hgvsp: ENSP00000438611.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.56A>G
  hgvsp: ENSP00000444615.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.56A>G
  hgvsp: ENSP00000219596.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.56A>G
  hgvsp: ENSP00000460269.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.56A>G
  hgvsp: ENSP00000444178.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.56A>G
  hgvsp: ENSP00000444471.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.56A>G
  hgvsp: ENSP00000461186.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.56A>G
  hgvsp: ENSP00000339639.4:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.56A>G
  hgvsp: ENSP00000460551.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.56A>G
  hgvsp: ENSP00000458312.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr19Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-3306540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306540
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306540
    reference: chr 16
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.48G>A
  hgvsp: ENST00000536980.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.48G>A
  hgvsp: ENST00000574583.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.48G>A
  hgvsp: ENST00000542898.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.48G>A
  hgvsp: ENST00000539145.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.48G>A
  hgvsp: ENST00000576315.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.48G>A
  hgvsp: ENST00000572244.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.48G>A
  hgvsp: ENST00000339854.4:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.48G>A
  hgvsp: ENST00000537682.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.48G>A
  hgvsp: ENST00000570511.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.48G>A
  hgvsp: ENST00000219596.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.48G>A
  hgvsp: ENST00000536379.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.48G>A
  hgvsp: ENST00000538326.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.48G>A
  hgvsp: ENST00000541159.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu16Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

16-3306542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306542
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306542
    reference: chr 16
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.46C>T
  hgvsp: ENST00000538326.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.46C>T
  hgvsp: ENST00000542898.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.46C>T
  hgvsp: ENST00000539145.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.46C>T
  hgvsp: ENST00000574583.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.46C>T
  hgvsp: ENST00000572244.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.46C>T
  hgvsp: ENST00000536980.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.46C>T
  hgvsp: ENST00000541159.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.46C>T
  hgvsp: ENST00000536379.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.46C>T
  hgvsp: ENST00000570511.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.46C>T
  hgvsp: ENST00000219596.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.46C>T
  hgvsp: ENST00000339854.4:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.46C>T
  hgvsp: ENST00000537682.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.46C>T
  hgvsp: ENST00000576315.1:c.46C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu16Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

16-3306546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306546
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306546
    reference: chr 16
allele count: 131
allele frequency: 1.079415302977868e-3
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.42G>A
  hgvsp: ENST00000536980.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.42G>A
  hgvsp: ENST00000539145.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.42G>A
  hgvsp: ENST00000339854.4:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.42G>A
  hgvsp: ENST00000538326.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.42G>A
  hgvsp: ENST00000570511.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.42G>A
  hgvsp: ENST00000536379.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.42G>A
  hgvsp: ENST00000219596.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.42G>A
  hgvsp: ENST00000574583.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.42G>A
  hgvsp: ENST00000576315.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.42G>A
  hgvsp: ENST00000542898.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.42G>A
  hgvsp: ENST00000537682.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.42G>A
  hgvsp: ENST00000572244.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.42G>A
  hgvsp: ENST00000541159.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu14Glu
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

16-3306551-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306551
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306551
    reference: chr 16
allele count: 103
allele frequency: 8.487565304810719e-4
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.37C>G
  hgvsp: ENSP00000444615.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.37C>G
  hgvsp: ENSP00000461186.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.37C>G
  hgvsp: ENSP00000460269.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.37C>G
  hgvsp: ENSP00000460551.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.37C>G
  hgvsp: ENSP00000445079.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.37C>G
  hgvsp: ENSP00000444178.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.37C>G
  hgvsp: ENSP00000339639.4:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.37C>G
  hgvsp: ENSP00000444471.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.37C>G
  hgvsp: ENSP00000437486.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.37C>G
  hgvsp: ENSP00000458312.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.37C>G
  hgvsp: ENSP00000219596.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.37C>G
  hgvsp: ENSP00000438611.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.37C>G
  hgvsp: ENSP00000438711.1:p.Leu13Val
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu13Val
num of homozygotes: 3
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

16-3306553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306553
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306553
    reference: chr 16
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.35C>T
  hgvsp: ENSP00000437486.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.35C>T
  hgvsp: ENSP00000339639.4:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.35C>T
  hgvsp: ENSP00000458312.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.35C>T
  hgvsp: ENSP00000460551.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.35C>T
  hgvsp: ENSP00000444471.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.35C>T
  hgvsp: ENSP00000444178.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.35C>T
  hgvsp: ENSP00000438611.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.35C>T
  hgvsp: ENSP00000461186.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.35C>T
  hgvsp: ENSP00000444615.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.35C>T
  hgvsp: ENSP00000445079.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.35C>T
  hgvsp: ENSP00000460269.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.35C>T
  hgvsp: ENSP00000219596.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.35C>T
  hgvsp: ENSP00000438711.1:p.Thr12Ile
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr12Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

16-3306570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306570
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306570
    reference: chr 16
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.18T>C
  hgvsp: ENST00000539145.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.18T>C
  hgvsp: ENST00000536379.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.18T>C
  hgvsp: ENST00000219596.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.18T>C
  hgvsp: ENST00000339854.4:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.18T>C
  hgvsp: ENST00000576315.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.18T>C
  hgvsp: ENST00000574583.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.18T>C
  hgvsp: ENST00000570511.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.18T>C
  hgvsp: ENST00000536980.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.18T>C
  hgvsp: ENST00000537682.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.18T>C
  hgvsp: ENST00000542898.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.18T>C
  hgvsp: ENST00000541159.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.18T>C
  hgvsp: ENST00000538326.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.18T>C
  hgvsp: ENST00000572244.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser6Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

16-3306574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306574
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306574
    reference: chr 16
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.14C>T
  hgvsp: ENSP00000460551.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.14C>T
  hgvsp: ENSP00000438711.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.14C>T
  hgvsp: ENSP00000339639.4:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.14C>T
  hgvsp: ENSP00000460269.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.14C>T
  hgvsp: ENSP00000219596.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.14C>T
  hgvsp: ENSP00000444178.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.14C>T
  hgvsp: ENSP00000445079.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.14C>T
  hgvsp: ENSP00000444471.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.14C>T
  hgvsp: ENSP00000437486.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.14C>T
  hgvsp: ENSP00000458312.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.14C>T
  hgvsp: ENSP00000444615.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.14C>T
  hgvsp: ENSP00000438611.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.14C>T
  hgvsp: ENSP00000461186.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

16-3306574-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306574
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306574
    reference: chr 16
allele count: 2
allele frequency: 1.649294102124291e-5
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.14C>G
  hgvsp: ENSP00000460269.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.14C>G
  hgvsp: ENSP00000444471.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.14C>G
  hgvsp: ENSP00000458312.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.14C>G
  hgvsp: ENSP00000460551.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.14C>G
  hgvsp: ENSP00000339639.4:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.14C>G
  hgvsp: ENSP00000444615.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.14C>G
  hgvsp: ENSP00000444178.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.14C>G
  hgvsp: ENSP00000219596.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.14C>G
  hgvsp: ENSP00000461186.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.14C>G
  hgvsp: ENSP00000438711.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.14C>G
  hgvsp: ENSP00000438611.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.14C>G
  hgvsp: ENSP00000445079.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.14C>G
  hgvsp: ENSP00000437486.1:p.Pro5Arg
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5Arg
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

16-3306587-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306587
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306587
    reference: chr 16
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460269
  ensembl transcript: ENST00000574583
  gene symbol: MEFV
  hgvsc: ENST00000574583.1:c.1A>C
  hgvsp: ENSP00000460269.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000445079
  ensembl transcript: ENST00000536379
  gene symbol: MEFV
  hgvsc: ENST00000536379.1:c.1A>C
  hgvsp: ENSP00000445079.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.1A>C
  hgvsp: ENSP00000444615.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000460551
  ensembl transcript: ENST00000576315
  gene symbol: MEFV
  hgvsc: ENST00000576315.1:c.1A>C
  hgvsp: ENSP00000460551.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438711
  ensembl transcript: ENST00000541159
  gene symbol: MEFV
  hgvsc: ENST00000541159.1:c.1A>C
  hgvsp: ENSP00000438711.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.1A>C
  hgvsp: ENSP00000219596.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.1A>C
  hgvsp: ENSP00000444178.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.1A>C
  hgvsp: ENSP00000339639.4:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.1A>C
  hgvsp: ENSP00000437486.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444471
  ensembl transcript: ENST00000539145
  gene symbol: MEFV
  hgvsc: ENST00000539145.1:c.1A>C
  hgvsp: ENSP00000444471.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000461186
  ensembl transcript: ENST00000572244
  gene symbol: MEFV
  hgvsc: ENST00000572244.1:c.1A>C
  hgvsp: ENSP00000461186.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.1A>C
  hgvsp: ENSP00000438611.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000458312
  ensembl transcript: ENST00000570511
  gene symbol: MEFV
  hgvsc: ENST00000570511.1:c.1A>C
  hgvsp: ENSP00000458312.1:p.Met1?
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-3306600-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306600
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306600
    reference: chr 16
allele count: 3
allele frequency: 2.481225394514838e-5
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.-13C>G
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6495
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

16-3306602-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306602
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306602
    reference: chr 16
allele count: 140
allele frequency: 1.157866878390896e-3
allele num: 120912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.-15C>G
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.-15C>G
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.-15C>G
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.-15C>G
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.-15C>G
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.-15C>G
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35435
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11736
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

16-3306609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306609
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306609
    reference: chr 16
allele count: 2
allele frequency: 1.655930715858849e-5
allele num: 120778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.-22C>T
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.-22C>T
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.-22C>T
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.-22C>T
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.-22C>T
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.-22C>T
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6564
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

16-3306610-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306610
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306609
    reference: chr 16
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000219596
  ensembl transcript: ENST00000219596
  gene symbol: MEFV
  hgvsc: ENST00000219596.1:c.-24delC
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444615
  ensembl transcript: ENST00000542898
  gene symbol: MEFV
  hgvsc: ENST00000542898.1:c.-24delC
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000438611
  ensembl transcript: ENST00000537682
  gene symbol: MEFV
  hgvsc: ENST00000537682.1:c.-24delC
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000437486
  ensembl transcript: ENST00000538326
  gene symbol: MEFV
  hgvsc: ENST00000538326.1:c.-24delC
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000444178
  ensembl transcript: ENST00000536980
  gene symbol: MEFV
  hgvsc: ENST00000536980.1:c.-24delC
  variant of: http://identifiers.org/hgnc/6998
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000103313
  ensembl protein: ENSP00000339639
  ensembl transcript: ENST00000339854
  gene symbol: MEFV
  hgvsc: ENST00000339854.4:c.-24delC
  variant of: http://identifiers.org/hgnc/6998
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: AG
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

16-3306631-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3306631
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3306631
    reference: chr 16
allele count: 5
allele frequency: 4.153720903185073e-5
allele num: 120374
alternate allele: C
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6571
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 33434
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9942
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5
  allele frequency: 7.544209065121612e-5
  allele num: 66276
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11548
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

16-3333770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3333770
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3333770
    reference: chr 16
allele count: 2
allele frequency: 1.897641231948688e-5
allele num: 105394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000461861
  ensembl transcript: ENST00000572748
  gene symbol: ZNF263
  hgvsc: ENST00000572748.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000459998
  ensembl transcript: ENST00000574253
  gene symbol: ZNF263
  hgvsc: ENST00000574253.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000460278
  ensembl transcript: ENST00000573578
  gene symbol: ZNF263
  hgvsc: ENST00000573578.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000444497
  ensembl transcript: ENST00000538765
  gene symbol: ZNF263
  hgvsc: ENST00000538765.1:c.-170-5623G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000219069
  ensembl transcript: ENST00000219069
  gene symbol: ZNF263
  hgvsc: ENST00000219069.5:c.-49G>A
  variant of: http://identifiers.org/hgnc/13056
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 6146
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genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 432
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genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 667
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genotype quality: GenotypeQuality
  all individuals: 138
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genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21888
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

16-3333772-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3333772
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3333772
    reference: chr 16
allele count: 1
allele frequency: 9.487846069185373e-6
allele num: 105398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000460278
  ensembl transcript: ENST00000573578
  gene symbol: ZNF263
  hgvsc: ENST00000573578.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000461861
  ensembl transcript: ENST00000572748
  gene symbol: ZNF263
  hgvsc: ENST00000572748.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000444497
  ensembl transcript: ENST00000538765
  gene symbol: ZNF263
  hgvsc: ENST00000538765.1:c.-170-5621A>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000459998
  ensembl transcript: ENST00000574253
  gene symbol: ZNF263
  hgvsc: ENST00000574253.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000219069
  ensembl transcript: ENST00000219069
  gene symbol: ZNF263
  hgvsc: ENST00000219069.5:c.-47A>G
  variant of: http://identifiers.org/hgnc/13056
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 429
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genotype quality: GenotypeQuality
  all individuals: 21886
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-3333774-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3333774
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3333774
    reference: chr 16
allele count: 1
allele frequency: 9.493971328206588e-6
allele num: 105330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000461861
  ensembl transcript: ENST00000572748
  gene symbol: ZNF263
  hgvsc: ENST00000572748.1:c.-45G>C
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000219069
  ensembl transcript: ENST00000219069
  gene symbol: ZNF263
  hgvsc: ENST00000219069.5:c.-45G>C
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000444497
  ensembl transcript: ENST00000538765
  gene symbol: ZNF263
  hgvsc: ENST00000538765.1:c.-170-5619G>C
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000460278
  ensembl transcript: ENST00000573578
  gene symbol: ZNF263
  hgvsc: ENST00000573578.1:c.-45G>C
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000459998
  ensembl transcript: ENST00000574253
  gene symbol: ZNF263
  hgvsc: ENST00000574253.1:c.-45G>C
  variant of: http://identifiers.org/hgnc/13056
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
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genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 498
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 447
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genotype quality: GenotypeQuality
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

16-3333778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3333778
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3333778
    reference: chr 16
allele count: 1
allele frequency: 9.540164090822363e-6
allele num: 104820
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000219069
  ensembl transcript: ENST00000219069
  gene symbol: ZNF263
  hgvsc: ENST00000219069.5:c.-41G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000460278
  ensembl transcript: ENST00000573578
  gene symbol: ZNF263
  hgvsc: ENST00000573578.1:c.-41G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000461861
  ensembl transcript: ENST00000572748
  gene symbol: ZNF263
  hgvsc: ENST00000572748.1:c.-41G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000444497
  ensembl transcript: ENST00000538765
  gene symbol: ZNF263
  hgvsc: ENST00000538765.1:c.-170-5615G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000459998
  ensembl transcript: ENST00000574253
  gene symbol: ZNF263
  hgvsc: ENST00000574253.1:c.-41G>A
  variant of: http://identifiers.org/hgnc/13056
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21663
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

16-3333781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3333781
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3333781
    reference: chr 16
allele count: 4
allele frequency: 3.84644972690207e-5
allele num: 103992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000459998
  ensembl transcript: ENST00000574253
  gene symbol: ZNF263
  hgvsc: ENST00000574253.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000460278
  ensembl transcript: ENST00000573578
  gene symbol: ZNF263
  hgvsc: ENST00000573578.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000219069
  ensembl transcript: ENST00000219069
  gene symbol: ZNF263
  hgvsc: ENST00000219069.5:c.-38C>T
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000461861
  ensembl transcript: ENST00000572748
  gene symbol: ZNF263
  hgvsc: ENST00000572748.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000444497
  ensembl transcript: ENST00000538765
  gene symbol: ZNF263
  hgvsc: ENST00000538765.1:c.-170-5612C>T
  variant of: http://identifiers.org/hgnc/13056
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5542
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

16-3333788-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3333788
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3333788
    reference: chr 16
allele count: 597
allele frequency: 6.25196355639334e-3
allele num: 95490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000459998
  ensembl transcript: ENST00000574253
  gene symbol: ZNF263
  hgvsc: ENST00000574253.1:c.-31T>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000444497
  ensembl transcript: ENST00000538765
  gene symbol: ZNF263
  hgvsc: ENST00000538765.1:c.-170-5605T>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000461861
  ensembl transcript: ENST00000572748
  gene symbol: ZNF263
  hgvsc: ENST00000572748.1:c.-31T>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000460278
  ensembl transcript: ENST00000573578
  gene symbol: ZNF263
  hgvsc: ENST00000573578.1:c.-31T>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000219069
  ensembl transcript: ENST00000219069
  gene symbol: ZNF263
  hgvsc: ENST00000219069.5:c.-31T>G
  variant of: http://identifiers.org/hgnc/13056
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 3.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 3.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 4.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 5.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 4.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 2.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 8.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 5.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 8.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 2.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 3.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 4393
  bin: 2.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 7.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 19246
  bin: 9.75e1
  variant carriers: 199
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 4.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 4.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 1.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 9.25e1
  variant carriers: 16
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

16-3333791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3333791
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3333791
    reference: chr 16
allele count: 32
allele frequency: 3.069544364508394e-4
allele num: 104250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000459998
  ensembl transcript: ENST00000574253
  gene symbol: ZNF263
  hgvsc: ENST00000574253.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000219069
  ensembl transcript: ENST00000219069
  gene symbol: ZNF263
  hgvsc: ENST00000219069.5:c.-28C>T
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000461861
  ensembl transcript: ENST00000572748
  gene symbol: ZNF263
  hgvsc: ENST00000572748.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000460278
  ensembl transcript: ENST00000573578
  gene symbol: ZNF263
  hgvsc: ENST00000573578.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000444497
  ensembl transcript: ENST00000538765
  gene symbol: ZNF263
  hgvsc: ENST00000538765.1:c.-170-5602C>T
  variant of: http://identifiers.org/hgnc/13056
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21213
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

16-3333795-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3333795
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3333795
    reference: chr 16
allele count: 1
allele frequency: 9.547815459822792e-6
allele num: 104736
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000219069
  ensembl transcript: ENST00000219069
  gene symbol: ZNF263
  hgvsc: ENST00000219069.5:c.-24C>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000460278
  ensembl transcript: ENST00000573578
  gene symbol: ZNF263
  hgvsc: ENST00000573578.1:c.-24C>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000459998
  ensembl transcript: ENST00000574253
  gene symbol: ZNF263
  hgvsc: ENST00000574253.1:c.-24C>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000461861
  ensembl transcript: ENST00000572748
  gene symbol: ZNF263
  hgvsc: ENST00000572748.1:c.-24C>G
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000444497
  ensembl transcript: ENST00000538765
  gene symbol: ZNF263
  hgvsc: ENST00000538765.1:c.-170-5598C>G
  variant of: http://identifiers.org/hgnc/13056
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-3333802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3333802
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 3333802
    reference: chr 16
allele count: 3
allele frequency: 2.84608378870674e-5
allele num: 105408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000444497
  ensembl transcript: ENST00000538765
  gene symbol: ZNF263
  hgvsc: ENST00000538765.1:c.-170-5591G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000460278
  ensembl transcript: ENST00000573578
  gene symbol: ZNF263
  hgvsc: ENST00000573578.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000459998
  ensembl transcript: ENST00000574253
  gene symbol: ZNF263
  hgvsc: ENST00000574253.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000461861
  ensembl transcript: ENST00000572748
  gene symbol: ZNF263
  hgvsc: ENST00000572748.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/13056
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000006194
  ensembl protein: ENSP00000219069
  ensembl transcript: ENST00000219069
  gene symbol: ZNF263
  hgvsc: ENST00000219069.5:c.-17G>A
  variant of: http://identifiers.org/hgnc/13056
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 501
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4722
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 36244
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 861
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1430
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 387
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 436
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37186
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6190
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.064800730149072e-4
allele num: 65740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-1

DP
type: SiteQuality
SIO_000300: 1.758387e6

QD
type: SiteQuality
SIO_000300: 1.342e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1430
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6194
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
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: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-5
allele num: 65780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 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: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.438e0

DP
type: SiteQuality
SIO_000300: 1.760077e6

QD
type: SiteQuality
SIO_000300: 9.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.882e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

GenotypeDepth
all individuals: 367
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11851
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4787
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1430
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37874
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 804
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 454
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2027
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6693
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510756586898719e-5
allele num: 66192
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 3.161e0

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

DP
type: SiteQuality
SIO_000300: 1.769172e6

GenotypeDepth
all individuals: 310
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 483
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 386
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 801
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6235
bin: 9.75e1
variant carriers: 2

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018685664261781e-5
allele num: 66254
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: -6.873e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.582e0

QD
type: SiteQuality
SIO_000300: 9.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.771861e6

GenotypeDepth
all individuals: 228
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4843
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1430
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 420
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 818
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3031
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6237
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 37915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6699
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.704968944099378e-5
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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SIO_000300: 8.79e-1

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele num: 10310
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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African
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allele frequency: 1.935733643050716e-4
allele num: 10332
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.516983859311009e-5
allele num: 66416
num of homozygotes: 0

DP
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
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SIO_000300: 2.81e0

ReadPosRankSum
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SIO_000300: 3.15e-1

GenotypeDepth
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variant carriers: 1

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

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

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

European (Non-Finnish)
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allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11568
num of homozygotes: 0

Other
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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allele num: 66462
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African
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East Asian
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South Asian
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QD
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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Latino
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Other
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East Asian
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European (Finnish)
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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ClippingRankSum
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FS
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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MQ
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ReadPosRankSum
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SIO_000300: 5.22e-1

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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Other
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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Other
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East Asian
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MQRankSum
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FS
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QD
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BaseQRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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SIO_000300: 9.399999999999999e-1

MQ
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SIO_000300: 5.946e1

ClippingRankSum
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SIO_000300: -6.73e-1

DP
type: SiteQuality
SIO_000300: 1.781165e6

MQRankSum
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SIO_000300: 8.100000000000001e-1

QD
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BaseQRankSum
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SIO_000300: 7.44e-1

GenotypeDepth
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele num: 10388
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East Asian
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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QD
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SIO_000300: 1.553e1

MQ
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 1.85e0

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

GenotypeDepth
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variant carriers: 0

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

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

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

South Asian
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allele num: 16512
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.149e0

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

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

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

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

South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Other
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FS
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -7.396e0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 2598
bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.91e-1

QD
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InbreedingCoeff
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SIO_000300: 3.1e-3

MQRankSum
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SIO_000300: -3.15e-1

BaseQRankSum
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SIO_000300: -1.732e0

FS
type: SiteQuality
SIO_000300: 6.0e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.783163e6

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.997001499250375e-5
allele num: 66700
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
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SIO_000300: 2.5e-3

BaseQRankSum
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SIO_000300: -3.502e0

FS
type: SiteQuality
SIO_000300: 3.228e0

MQRankSum
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SIO_000300: -3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.136e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.783585e6

GenotypeDepth
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variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

Other
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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

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

FS
type: SiteQuality
SIO_000300: 8.159999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

MQRankSum
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SIO_000300: -1.116e0

DP
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SIO_000300: 1.783661e6

BaseQRankSum
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SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
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SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.52e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 16512
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: 46
allele frequency: 4.422226494904826e-3
allele num: 10402
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MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -5.37e-1

MQ
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SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66704
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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South Asian
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ClippingRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 1

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 1
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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SIO_000300: 1.87e-1

VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: 2.9e-3

DP
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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South Asian
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Other
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Latino
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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Latino
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Other
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East Asian
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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FS
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DP
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MQ
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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European (Finnish)
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Latino
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African
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East Asian
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European (Non-Finnish)
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South Asian
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DP
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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African
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FS
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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FS
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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MQRankSum
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QD
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VQSLOD
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MQ
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DP
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FS
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MQ
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Finnish)
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MQ
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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Other
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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Latino
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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European (Finnish)
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East Asian
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FS
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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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: 130

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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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: 2580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 117
allele frequency: 1.125649413122956e-2
allele num: 10394
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.036806635562468e-3
allele num: 11574
num of homozygotes: 0

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

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

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: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

QD
type: SiteQuality
SIO_000300: 1.353e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.49e-2

DP
type: SiteQuality
SIO_000300: 1.803057e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeDepth
all individuals: 432
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 270
bin: 4.75e1
variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 54

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 445
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variant carriers: 5

GenotypeDepth
all individuals: 497
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variant carriers: 6

GenotypeDepth
all individuals: 54
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 6720
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variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6531
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variant carriers: 100

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 38029
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2044
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.897817222355481e-4
allele num: 66704
num of homozygotes: 0

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

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

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
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: 74
allele frequency: 1.118838826731176e-2
allele num: 6614
num of homozygotes: 3

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.80224e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.07e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

GenotypeDepth
all individuals: 556
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36429
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variant carriers: 0

GenotypeDepth
all individuals: 511
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variant carriers: 0

GenotypeDepth
all individuals: 319
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GenotypeDepth
all individuals: 505
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GenotypeDepth
all individuals: 431
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variant carriers: 0

GenotypeDepth
all individuals: 276
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GenotypeDepth
all individuals: 407
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GenotypeDepth
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 6490
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variant carriers: 2

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 3035
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variant carriers: 0

GenotypeQuality
all individuals: 2047
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variant carriers: 0

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

GenotypeQuality
all individuals: 2576
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 6724
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 812
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variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.795879e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

FS
type: SiteQuality
SIO_000300: 2.458e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.044e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeDepth
all individuals: 511
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12102
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variant carriers: 0

GenotypeDepth
all individuals: 36327
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variant carriers: 0

GenotypeDepth
all individuals: 431
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variant carriers: 0

GenotypeDepth
all individuals: 276
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variant carriers: 0

GenotypeDepth
all individuals: 1494
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variant carriers: 1

GenotypeDepth
all individuals: 443
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variant carriers: 0

GenotypeDepth
all individuals: 407
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2042
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variant carriers: 0

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

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 6491
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variant carriers: 1

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

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 141
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variant carriers: 0

GenotypeQuality
all individuals: 3035
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variant carriers: 0

GenotypeQuality
all individuals: 834
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 6692
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variant carriers: 0

GenotypeQuality
all individuals: 2570
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variant carriers: 0

GenotypeQuality
all individuals: 37916
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 812
bin: 8.75e1
variant carriers: 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: 16508
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.316e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 1.79424e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeDepth
all individuals: 55
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 511
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1494
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variant carriers: 1

GenotypeDepth
all individuals: 4906
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variant carriers: 0

GenotypeDepth
all individuals: 441
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variant carriers: 0

GenotypeDepth
all individuals: 320
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variant carriers: 0

GenotypeDepth
all individuals: 556
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variant carriers: 0

GenotypeDepth
all individuals: 495
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 6.25e1
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GenotypeQuality
all individuals: 6681
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
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: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.793955e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.262e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

GenotypeDepth
all individuals: 495
bin: 8.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 407
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12090
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 276
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variant carriers: 0

GenotypeDepth
all individuals: 4906
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 511
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 6681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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bin: 6.25e1
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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.793955e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.38e0

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.262e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 809
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 834
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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: 109
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GenotypeQuality
all individuals: 338
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GenotypeQuality
all individuals: 2040
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variant carriers: 0

GenotypeQuality
all individuals: 6494
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3031
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6668
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

FS
type: SiteQuality
SIO_000300: 4.596e0

VQSLOD
type: SiteQuality
SIO_000300: -5.261e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.885e1

DP
type: SiteQuality
SIO_000300: 1.790077e6

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 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: 3
allele frequency: 4.510328652614487e-5
allele num: 66514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 1.782049e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.359e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

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

GenotypeQuality
all individuals: 805
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2544
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6626
bin: 9.75e1
variant carriers: 140

GenotypeQuality
all individuals: 6572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 131
allele frequency: 1.286584168139855e-2
allele num: 10182
num of homozygotes: 1

Latino
type: Population
allele count: 8
allele frequency: 6.918021445866483e-4
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

FS
type: SiteQuality
SIO_000300: 1.373e0

QD
type: SiteQuality
SIO_000300: 1.416e1

DP
type: SiteQuality
SIO_000300: 1.790075e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6532
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 1.781602e6

GenotypeQuality
all individuals: 761
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6565
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36268
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.116e0

FS
type: SiteQuality
SIO_000300: 1.1115e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.684e0

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.78079e6

MQ
type: SiteQuality
SIO_000300: 6.039e1

QD
type: SiteQuality
SIO_000300: 1.607e1

VQSLOD
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
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: 6608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 1.357e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 1.763121e6

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
all individuals: 3196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4537
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.301201637396012e-5
allele num: 60584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

FS
type: SiteQuality
SIO_000300: 1.5567e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.252506e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.221e0

QD
type: SiteQuality
SIO_000300: 1.419e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.766e-1

GenotypeQuality
all individuals: 2483
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3139
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.210946960523129e-4
allele num: 8258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

DP
type: SiteQuality
SIO_000300: 2.253089e6

VQSLOD
type: SiteQuality
SIO_000300: -1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: -1.062e0

QD
type: SiteQuality
SIO_000300: 1.655e1

MQ
type: SiteQuality
SIO_000300: 6.055e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

GenotypeQuality
all individuals: 3739
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.137656427758817e-4
allele num: 8790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 7.85e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 2.252283e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

GenotypeQuality
all individuals: 4279
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3094
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8688
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.858965272856131e-5
allele num: 11288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

FS
type: SiteQuality
SIO_000300: 1.127e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

DP
type: SiteQuality
SIO_000300: 2.246033e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.468e0

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21655
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.35401643468053e-5
allele num: 59630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.776514478593e-4
allele num: 11258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

FS
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

DP
type: SiteQuality
SIO_000300: 2.247595e6

GenotypeQuality
all individuals: 4975
bin: 6.25e1
variant carriers: 25

GenotypeQuality
all individuals: 3412
bin: 2.25e1
variant carriers: 32

GenotypeQuality
all individuals: 875
bin: 5.25e1
variant carriers: 28

GenotypeQuality
all individuals: 1186
bin: 1.75e1
variant carriers: 22

GenotypeQuality
all individuals: 890
bin: 3.25e1
variant carriers: 30

European (Finnish)
type: Population
allele count: 84
allele frequency: 1.771404470687474e-2
allele num: 4742
num of homozygotes: 0

East Asian
type: Population
allele count: 53
allele frequency: 6.908237747653806e-3
allele num: 7672
num of homozygotes: 0

African
type: Population
allele count: 75
allele frequency: 1.002673796791444e-2
allele num: 7480
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 1.118210862619808e-2
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 290
allele frequency: 5.217328727691422e-3
allele num: 55584
num of homozygotes: 0

Latino
type: Population
allele count: 77
allele frequency: 7.481539059463661e-3
allele num: 10292
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.209588739828458e-3
allele num: 9094
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.839e1

QD
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.176148e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.933e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.352e0

FS
type: SiteQuality
SIO_000300: 1.3638e2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.673416111650323e-5
allele num: 59758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9450
num of homozygotes: 0

Latino
type: Population
allele count: 31
allele frequency: 2.755065766086029e-3
allele num: 11252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.04e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

FS
type: SiteQuality
SIO_000300: 4.321e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

DP
type: SiteQuality
SIO_000300: 2.171031e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.13e-1

GenotypeQuality
all individuals: 21217
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 7.25e1
variant carriers: 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: 8652
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.66688891852247e-5
allele num: 59992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 9.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.418e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.523e0

DP
type: SiteQuality
SIO_000300: 2.174127e6