11-46404128-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404128
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404128
    reference: chr 11
allele count: 2
allele frequency: 2.792984024131382e-5
allele num: 71608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.77-9T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.245-9T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.245-9T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.369-9T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.245-9T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.245-9T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.245-9T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.245-9T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.235-9T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.592-9T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.245-9T>C
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-46404133-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404133
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404133
    reference: chr 11
allele count: 1
allele frequency: 1.317210674675308e-5
allele num: 75918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.245-4C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.369-4C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.77-4C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.245-4C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.245-4C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.592-4C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.235-4C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.245-4C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.245-4C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.245-4C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.245-4C>A
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.245-4C>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

11-46404138-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404138
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404138
    reference: chr 11
allele count: 1
allele frequency: 1.22955858846674e-5
allele num: 81330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.246C>G
  hgvsp: ENST00000395565.1:c.246C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.246C>G
  hgvsp: ENST00000489525.1:c.246C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.246C>G
  hgvsp: ENST00000407067.1:c.246C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.246C>G
  hgvsp: ENST00000533952.1:c.246C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.246C>G
  hgvsp: ENST00000405308.2:c.246C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.78C>G
  hgvsp: ENST00000395569.4:c.78C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.593C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.246C>G
  hgvsp: ENST00000395566.4:c.246C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.370C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.246C>G
  hgvsp: ENST00000359803.3:c.246C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.236C>G
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.246C>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

11-46404143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404143
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404143
    reference: chr 11
allele count: 1
allele frequency: 1.157863047958687e-5
allele num: 86366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.251G>A
  hgvsp: ENSP00000432649.1:p.Cys84Tyr
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.251G>A
  hgvsp: ENSP00000378932.1:p.Cys84Tyr
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.251G>A
  hgvsp: ENSP00000384034.1:p.Cys84Tyr
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.83G>A
  hgvsp: ENSP00000378936.4:p.Cys28Tyr
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.251G>A
  hgvsp: ENSP00000378933.4:p.Cys84Tyr
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.251G>A
  hgvsp: ENSP00000433240.1:p.Cys84Tyr
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.251G>A
  hgvsp: ENSP00000352852.2:p.Cys84Tyr
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.375G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.598G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.251G>A
  hgvsp: ENSP00000385451.2:p.Cys84Tyr
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.241G>A
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys84Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

11-46404143-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404143
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404144
    reference: chr 11
allele count: 1
allele frequency: 1.157863047958687e-5
allele num: 86366
alternate allele: GC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.252dupC
  hgvsp: ENSP00000385451.2:p.Lys85GlnfsTer5
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.252dupC
  hgvsp: ENSP00000432649.1:p.Lys85GlnfsTer5
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.252dupC
  hgvsp: ENSP00000352852.2:p.Lys85GlnfsTer5
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.252dupC
  hgvsp: ENSP00000378933.4:p.Lys85GlnfsTer5
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.599dupC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.84dupC
  hgvsp: ENSP00000378936.4:p.Lys29GlnfsTer5
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.252dupC
  hgvsp: ENSP00000433240.1:p.Lys85GlnfsTer5
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.376dupC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.252dupC
  hgvsp: ENSP00000378932.1:p.Lys85GlnfsTer5
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.252dupC
  hgvsp: ENSP00000384034.1:p.Lys85GlnfsTer5
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.242dupC
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27930
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys85GlnfsTer5
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

11-46404148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404148
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404148
    reference: chr 11
allele count: 1
allele frequency: 1.098273514035935e-5
allele num: 91052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.380T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.256T>C
  hgvsp: ENSP00000384034.1:p.Tyr86His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.256T>C
  hgvsp: ENSP00000385451.2:p.Tyr86His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.256T>C
  hgvsp: ENSP00000433240.1:p.Tyr86His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.256T>C
  hgvsp: ENSP00000378933.4:p.Tyr86His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.256T>C
  hgvsp: ENSP00000378932.1:p.Tyr86His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.256T>C
  hgvsp: ENSP00000352852.2:p.Tyr86His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.256T>C
  hgvsp: ENSP00000432649.1:p.Tyr86His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.88T>C
  hgvsp: ENSP00000378936.4:p.Tyr30His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.246T>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.603T>C
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr86His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/11-46404162-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404162
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404162
    reference: chr 11
allele count: 1
allele frequency: 1.012678737797221e-5
allele num: 98748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.260C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.270C>A
  hgvsp: ENSP00000384034.1:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.270C>A
  hgvsp: ENSP00000432649.1:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.617C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.394C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.270C>A
  hgvsp: ENSP00000433240.1:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.102C>A
  hgvsp: ENSP00000378936.4:p.Asn34Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.270C>A
  hgvsp: ENSP00000378932.1:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.270C>A
  hgvsp: ENSP00000378933.4:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.270C>A
  hgvsp: ENSP00000352852.2:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.270C>A
  hgvsp: ENSP00000385451.2:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn90Lys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

11-46404162-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404162
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404162
    reference: chr 11
allele count: 1
allele frequency: 1.012678737797221e-5
allele num: 98748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.270C>G
  hgvsp: ENSP00000433240.1:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.102C>G
  hgvsp: ENSP00000378936.4:p.Asn34Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.394C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.270C>G
  hgvsp: ENSP00000378933.4:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.270C>G
  hgvsp: ENSP00000384034.1:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.260C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.270C>G
  hgvsp: ENSP00000352852.2:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.270C>G
  hgvsp: ENSP00000378932.1:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.270C>G
  hgvsp: ENSP00000385451.2:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.617C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.270C>G
  hgvsp: ENSP00000432649.1:p.Asn90Lys
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn90Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

11-46404166-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404166
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404166
    reference: chr 11
allele count: 1
allele frequency: 9.937394415184339e-6
allele num: 100630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.274G>C
  hgvsp: ENSP00000384034.1:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.264G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.274G>C
  hgvsp: ENSP00000433240.1:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.274G>C
  hgvsp: ENSP00000378932.1:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.274G>C
  hgvsp: ENSP00000378933.4:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.274G>C
  hgvsp: ENSP00000352852.2:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.398G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.274G>C
  hgvsp: ENSP00000385451.2:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.274G>C
  hgvsp: ENSP00000432649.1:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.106G>C
  hgvsp: ENSP00000378936.4:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.621G>C
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly92Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

11-46404171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404171
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404171
    reference: chr 11
allele count: 15
allele frequency: 1.461048448366548e-4
allele num: 102666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.279G>A
  hgvsp: ENST00000395565.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.279G>A
  hgvsp: ENST00000407067.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.403G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.269G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.279G>A
  hgvsp: ENST00000395566.4:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.279G>A
  hgvsp: ENST00000359803.3:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.279G>A
  hgvsp: ENST00000533952.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.279G>A
  hgvsp: ENST00000405308.2:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.111G>A
  hgvsp: ENST00000395569.4:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.279G>A
  hgvsp: ENST00000489525.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.626G>A
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36624
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala93Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

11-46404171-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404171
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404171
    reference: chr 11
allele count: 1
allele frequency: 9.740322989110319e-6
allele num: 102666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.279G>C
  hgvsp: ENST00000489525.1:c.279G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.279G>C
  hgvsp: ENST00000395565.1:c.279G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.279G>C
  hgvsp: ENST00000407067.1:c.279G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.111G>C
  hgvsp: ENST00000395569.4:c.111G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.279G>C
  hgvsp: ENST00000359803.3:c.279G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.279G>C
  hgvsp: ENST00000395566.4:c.279G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.403G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.279G>C
  hgvsp: ENST00000405308.2:c.279G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.269G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.626G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.279G>C
  hgvsp: ENST00000533952.1:c.279G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36624
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala93Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

11-46404177-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404177
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404177
    reference: chr 11
allele count: 1
allele frequency: 9.555296500850421e-6
allele num: 104654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.285T>A
  hgvsp: ENSP00000433240.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.632T>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.285T>A
  hgvsp: ENSP00000352852.2:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.285T>A
  hgvsp: ENSP00000378932.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.285T>A
  hgvsp: ENSP00000432649.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.275T>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.285T>A
  hgvsp: ENSP00000384034.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.409T>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.285T>A
  hgvsp: ENSP00000385451.2:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.117T>A
  hgvsp: ENSP00000378936.4:p.Asp39Glu
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.285T>A
  hgvsp: ENSP00000378933.4:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp95Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

11-46404181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404181
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404181
    reference: chr 11
allele count: 2
allele frequency: 1.885831746091614e-5
allele num: 106054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.279G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.289G>A
  hgvsp: ENSP00000378932.1:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.413G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.289G>A
  hgvsp: ENSP00000433240.1:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.289G>A
  hgvsp: ENSP00000352852.2:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.289G>A
  hgvsp: ENSP00000432649.1:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.289G>A
  hgvsp: ENSP00000378933.4:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.289G>A
  hgvsp: ENSP00000385451.2:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.636G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.121G>A
  hgvsp: ENSP00000378936.4:p.Gly41Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.289G>A
  hgvsp: ENSP00000384034.1:p.Gly97Ser
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37571
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly97Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

11-46404182-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404182
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404182
    reference: chr 11
allele count: 3
allele frequency: 2.824645977704128e-5
allele num: 106208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.290G>T
  hgvsp: ENSP00000432649.1:p.Gly97Val
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.122G>T
  hgvsp: ENSP00000378936.4:p.Gly41Val
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.290G>T
  hgvsp: ENSP00000378932.1:p.Gly97Val
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.290G>T
  hgvsp: ENSP00000384034.1:p.Gly97Val
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.290G>T
  hgvsp: ENSP00000433240.1:p.Gly97Val
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.290G>T
  hgvsp: ENSP00000385451.2:p.Gly97Val
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.637G>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.290G>T
  hgvsp: ENSP00000352852.2:p.Gly97Val
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.290G>T
  hgvsp: ENSP00000378933.4:p.Gly97Val
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.414G>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.280G>T
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly97Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

11-46404190-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404190
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404190
    reference: chr 11
allele count: 1
allele frequency: 9.204373918486064e-6
allele num: 108644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.298A>G
  hgvsp: ENSP00000378933.4:p.Thr100Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.422A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.298A>G
  hgvsp: ENSP00000352852.2:p.Thr100Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.298A>G
  hgvsp: ENSP00000432649.1:p.Thr100Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.130A>G
  hgvsp: ENSP00000378936.4:p.Thr44Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.645A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.298A>G
  hgvsp: ENSP00000378932.1:p.Thr100Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.298A>G
  hgvsp: ENSP00000433240.1:p.Thr100Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.298A>G
  hgvsp: ENSP00000385451.2:p.Thr100Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.298A>G
  hgvsp: ENSP00000384034.1:p.Thr100Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.288A>G
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr100Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

11-46404197-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404197
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404197
    reference: chr 11
allele count: 1
allele frequency: 9.104317267248129e-6
allele num: 109838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.305T>G
  hgvsp: ENSP00000433240.1:p.Val102Gly
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.305T>G
  hgvsp: ENSP00000385451.2:p.Val102Gly
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.652T>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.295T>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.305T>G
  hgvsp: ENSP00000432649.1:p.Val102Gly
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.305T>G
  hgvsp: ENSP00000384034.1:p.Val102Gly
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.305T>G
  hgvsp: ENSP00000378932.1:p.Val102Gly
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.305T>G
  hgvsp: ENSP00000352852.2:p.Val102Gly
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.429T>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.305T>G
  hgvsp: ENSP00000378933.4:p.Val102Gly
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.137T>G
  hgvsp: ENSP00000378936.4:p.Val46Gly
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val102Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

11-46404199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404199
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404199
    reference: chr 11
allele count: 1
allele frequency: 9.087604507451835e-6
allele num: 110040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.139C>T
  hgvsp: ENSP00000378936.4:p.Arg47Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.307C>T
  hgvsp: ENSP00000352852.2:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.307C>T
  hgvsp: ENSP00000432649.1:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.307C>T
  hgvsp: ENSP00000385451.2:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.307C>T
  hgvsp: ENSP00000433240.1:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.307C>T
  hgvsp: ENSP00000384034.1:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.307C>T
  hgvsp: ENSP00000378932.1:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.307C>T
  hgvsp: ENSP00000378933.4:p.Arg103Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.297C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.654C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.431C>T
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg103Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

11-46404202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404202
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404202
    reference: chr 11
allele count: 1
allele frequency: 9.01892169772182e-6
allele num: 110878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.310C>T
  hgvsp: ENSP00000378932.1:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.310C>T
  hgvsp: ENSP00000384034.1:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.657C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.310C>T
  hgvsp: ENSP00000385451.2:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.310C>T
  hgvsp: ENSP00000432649.1:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.142C>T
  hgvsp: ENSP00000378936.4:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.310C>T
  hgvsp: ENSP00000352852.2:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.434C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.310C>T
  hgvsp: ENSP00000433240.1:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.310C>T
  hgvsp: ENSP00000378933.4:p.Gln104Ter
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.300C>T
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38359
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln104Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-46404213-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404213
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404213
    reference: chr 11
allele count: 2
allele frequency: 1.780721904660149e-5
allele num: 112314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.321G>T
  hgvsp: ENST00000395565.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.668G>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.311G>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.321G>T
  hgvsp: ENST00000489525.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.321G>T
  hgvsp: ENST00000533952.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.321G>T
  hgvsp: ENST00000395566.4:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.321G>T
  hgvsp: ENST00000407067.1:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.445G>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.321G>T
  hgvsp: ENST00000359803.3:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.153G>T
  hgvsp: ENST00000395569.4:c.153G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.321G>T
  hgvsp: ENST00000405308.2:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu107Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-46404215-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404215
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404215
    reference: chr 11
allele count: 1
allele frequency: 8.892999430848037e-6
allele num: 112448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.155A>G
  hgvsp: ENSP00000378936.4:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.323A>G
  hgvsp: ENSP00000433240.1:p.Lys108Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.323A>G
  hgvsp: ENSP00000384034.1:p.Lys108Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.670A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.323A>G
  hgvsp: ENSP00000385451.2:p.Lys108Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.323A>G
  hgvsp: ENSP00000432649.1:p.Lys108Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.323A>G
  hgvsp: ENSP00000378933.4:p.Lys108Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.323A>G
  hgvsp: ENSP00000378932.1:p.Lys108Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.313A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.447A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.323A>G
  hgvsp: ENSP00000352852.2:p.Lys108Arg
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys108Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

11-46404219-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404219
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404219
    reference: chr 11
allele count: 2
allele frequency: 1.775095411378362e-5
allele num: 112670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.327G>A
  hgvsp: ENST00000533952.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.674G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.327G>A
  hgvsp: ENST00000395565.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.327G>A
  hgvsp: ENST00000359803.3:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.327G>A
  hgvsp: ENST00000407067.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.451G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.327G>A
  hgvsp: ENST00000405308.2:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.327G>A
  hgvsp: ENST00000489525.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.327G>A
  hgvsp: ENST00000395566.4:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.317G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.159G>A
  hgvsp: ENST00000395569.4:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys109Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

11-46404222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404222
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404222
    reference: chr 11
allele count: 3
allele frequency: 2.660706683695189e-5
allele num: 112752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.330G>A
  hgvsp: ENST00000533952.1:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.320G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.162G>A
  hgvsp: ENST00000395569.4:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.330G>A
  hgvsp: ENST00000405308.2:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.330G>A
  hgvsp: ENST00000359803.3:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.677G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.330G>A
  hgvsp: ENST00000407067.1:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.330G>A
  hgvsp: ENST00000395565.1:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.330G>A
  hgvsp: ENST00000395566.4:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.454G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.330G>A
  hgvsp: ENST00000489525.1:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11818
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala110Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

11-46404224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404224
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404224
    reference: chr 11
allele count: 1
allele frequency: 8.858808313105721e-6
allele num: 112882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.322G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.332G>A
  hgvsp: ENSP00000384034.1:p.Arg111His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.332G>A
  hgvsp: ENSP00000352852.2:p.Arg111His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.164G>A
  hgvsp: ENSP00000378936.4:p.Arg55His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.332G>A
  hgvsp: ENSP00000378932.1:p.Arg111His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.332G>A
  hgvsp: ENSP00000385451.2:p.Arg111His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.332G>A
  hgvsp: ENSP00000433240.1:p.Arg111His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.332G>A
  hgvsp: ENSP00000432649.1:p.Arg111His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.332G>A
  hgvsp: ENSP00000378933.4:p.Arg111His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.456G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.679G>A
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg111His
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

11-46404227-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404227
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404227
    reference: chr 11
allele count: 2
allele frequency: 1.766191561136721e-5
allele num: 113238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.167A>G
  hgvsp: ENSP00000378936.4:p.Tyr56Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.459A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.335A>G
  hgvsp: ENSP00000378933.4:p.Tyr112Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.335A>G
  hgvsp: ENSP00000384034.1:p.Tyr112Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.335A>G
  hgvsp: ENSP00000433240.1:p.Tyr112Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.682A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.335A>G
  hgvsp: ENSP00000432649.1:p.Tyr112Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.335A>G
  hgvsp: ENSP00000352852.2:p.Tyr112Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.335A>G
  hgvsp: ENSP00000378932.1:p.Tyr112Cys
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.325A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.335A>G
  hgvsp: ENSP00000385451.2:p.Tyr112Cys
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr112Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

11-46404254-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404254
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404254
    reference: chr 11
allele count: 1
allele frequency: 8.894739650970415e-6
allele num: 112426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.362G>C
  hgvsp: ENSP00000352852.2:p.Arg121Pro
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.194G>C
  hgvsp: ENSP00000378936.4:p.Arg65Pro
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.709G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.362G>C
  hgvsp: ENSP00000384034.1:p.Arg121Pro
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.362G>C
  hgvsp: ENSP00000432649.1:p.Arg121Pro
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.362G>C
  hgvsp: ENSP00000385451.2:p.Arg121Pro
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.362G>C
  hgvsp: ENSP00000378933.4:p.Arg121Pro
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.362G>C
  hgvsp: ENSP00000433240.1:p.Arg121Pro
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.362G>C
  hgvsp: ENSP00000378932.1:p.Arg121Pro
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.352G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.486G>C
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg121Pro
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-46404271-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404271
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404271
    reference: chr 11
allele count: 2
allele frequency: 1.832945359898821e-5
allele num: 109114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.503A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.379A>G
  hgvsp: ENSP00000385451.2:p.Thr127Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.379A>G
  hgvsp: ENSP00000384034.1:p.Thr127Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.379A>G
  hgvsp: ENSP00000433240.1:p.Thr127Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.379A>G
  hgvsp: ENSP00000378932.1:p.Thr127Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.379A>G
  hgvsp: ENSP00000378933.4:p.Thr127Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.379A>G
  hgvsp: ENSP00000352852.2:p.Thr127Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.726A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.211A>G
  hgvsp: ENSP00000378936.4:p.Thr71Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.379A>G
  hgvsp: ENSP00000432649.1:p.Thr127Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.369A>G
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr127Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-46404272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404272
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404272
    reference: chr 11
allele count: 1
allele frequency: 9.164726799494107e-6
allele num: 109114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.727C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.380C>T
  hgvsp: ENSP00000433240.1:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.380C>T
  hgvsp: ENSP00000432649.1:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.380C>T
  hgvsp: ENSP00000385451.2:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.370C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.380C>T
  hgvsp: ENSP00000378933.4:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.380C>T
  hgvsp: ENSP00000378932.1:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.380C>T
  hgvsp: ENSP00000384034.1:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.504C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.212C>T
  hgvsp: ENSP00000378936.4:p.Thr71Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.380C>T
  hgvsp: ENSP00000352852.2:p.Thr127Ile
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33417
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr127Ile
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

11-46404274-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404274
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404274
    reference: chr 11
allele count: 2
allele frequency: 1.839960256858452e-5
allele num: 108698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.382C>G
  hgvsp: ENSP00000432649.1:p.Pro128Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.382C>G
  hgvsp: ENSP00000378933.4:p.Pro128Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.382C>G
  hgvsp: ENSP00000384034.1:p.Pro128Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.729C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.372C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.382C>G
  hgvsp: ENSP00000433240.1:p.Pro128Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.506C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.382C>G
  hgvsp: ENSP00000385451.2:p.Pro128Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.214C>G
  hgvsp: ENSP00000378936.4:p.Pro72Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.382C>G
  hgvsp: ENSP00000378932.1:p.Pro128Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.382C>G
  hgvsp: ENSP00000352852.2:p.Pro128Ala
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32935
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro128Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

11-46404274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404274
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404274
    reference: chr 11
allele count: 1
allele frequency: 9.199801284292259e-6
allele num: 108698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.382C>T
  hgvsp: ENSP00000384034.1:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.214C>T
  hgvsp: ENSP00000378936.4:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.382C>T
  hgvsp: ENSP00000378933.4:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.382C>T
  hgvsp: ENSP00000378932.1:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.382C>T
  hgvsp: ENSP00000352852.2:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.382C>T
  hgvsp: ENSP00000432649.1:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.729C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.382C>T
  hgvsp: ENSP00000433240.1:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.506C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.372C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.382C>T
  hgvsp: ENSP00000385451.2:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro128Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

11-46404281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404281
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404281
    reference: chr 11
allele count: 1
allele frequency: 9.42560370991762e-6
allele num: 106094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.221C>T
  hgvsp: ENSP00000378936.4:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.389C>T
  hgvsp: ENSP00000352852.2:p.Thr130Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.389C>T
  hgvsp: ENSP00000432649.1:p.Thr130Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.379C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.736C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.389C>T
  hgvsp: ENSP00000378933.4:p.Thr130Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.513C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.389C>T
  hgvsp: ENSP00000378932.1:p.Thr130Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.389C>T
  hgvsp: ENSP00000384034.1:p.Thr130Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.389C>T
  hgvsp: ENSP00000385451.2:p.Thr130Ile
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.389C>T
  hgvsp: ENSP00000433240.1:p.Thr130Ile
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr130Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

11-46404281-CCAAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404281
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404276
    reference: chr 11
allele count: 2
allele frequency: 1.885120741983524e-5
allele num: 106094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.395_399delCAAAG
  hgvsp: ENSP00000378933.4:p.Ala132GlyfsTer102
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.742_746delCAAAG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.389_394delCCAAAG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.395_399delCAAAG
  hgvsp: ENSP00000384034.1:p.Ala132GlyfsTer102
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.395_399delCAAAG
  hgvsp: ENSP00000385451.2:p.Ala132GlyfsTer102
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.227_231delCAAAG
  hgvsp: ENSP00000378936.4:p.Ala76GlyfsTer102
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.395_399delCAAAG
  hgvsp: ENSP00000433240.1:p.Ala132GlyfsTer33
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.385_389delCAAAG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.395_399delCAAAG
  hgvsp: ENSP00000352852.2:p.Ala132GlyfsTer102
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.395_399delCAAAG
  hgvsp: ENSP00000378932.1:p.Ala132GlyfsTer102
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.519_523delCAAAG
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9777
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala132GlyfsTer102
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: CCAAAG
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

11-46404282-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404282
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404282
    reference: chr 11
allele count: 1
allele frequency: 9.470952588411342e-6
allele num: 105586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.380C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.390C>T
  hgvsp: ENST00000395565.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.390C>T
  hgvsp: ENST00000359803.3:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.390C>T
  hgvsp: ENST00000405308.2:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.390C>T
  hgvsp: ENST00000395566.4:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.390C>T
  hgvsp: ENST00000407067.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.390C>T
  hgvsp: ENST00000489525.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.737C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000432649
  ensembl transcript: ENST00000533952
  gene symbol: MDK
  hgvsc: ENST00000533952.1:c.390C>T
  hgvsp: ENST00000533952.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.222C>T
  hgvsp: ENST00000395569.4:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.514C>T
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr130Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

11-46404290-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404290
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404290
    reference: chr 11
allele count: 4
allele frequency: 3.900308124341823e-5
allele num: 102556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.398A>G
  hgvsp: ENSP00000352852.2:p.Lys133Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.745A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.398A>G
  hgvsp: ENSP00000378933.4:p.Lys133Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.398A>G
  hgvsp: ENSP00000433240.1:p.Lys133Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.522A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.398A>G
  hgvsp: ENSP00000385451.2:p.Lys133Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.398A>G
  hgvsp: ENSP00000384034.1:p.Lys133Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.398A>G
  hgvsp: ENSP00000378932.1:p.Lys133Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.388A>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.230A>G
  hgvsp: ENSP00000378936.4:p.Lys77Arg
  variant of: http://identifiers.org/hgnc/6972
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16439
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys133Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

11-46404312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404312
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404312
    reference: chr 11
allele count: 1
allele frequency: 1.218412651996978e-5
allele num: 82074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+14G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+14G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.767G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+14G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+14G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+14G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.420G>A
  hgvsp: ENST00000489525.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.544G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+14G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+14G>A
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22814
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28948
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu140Glu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-46404316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404316
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404316
    reference: chr 11
allele count: 1
allele frequency: 1.310238201304997e-5
allele num: 76322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.548G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+18G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+18G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.424G>A
  hgvsp: ENSP00000433240.1:p.Gly142Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+18G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+18G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+18G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+18G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000481047
  gene symbol: MDK
  hgvsc: ENST00000481047.1:n.771G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+18G>A
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly142Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

11-46404329-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404329
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404329
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 19938
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+31C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+31C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+31C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.437C>G
  hgvsp: ENSP00000433240.1:p.Ser146Trp
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+31C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+31C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+31C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+31C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.561C>G
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24220
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28992
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser146Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

11-46404332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404332
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404332
    reference: chr 11
allele count: 1
allele frequency: 5.860977611065526e-5
allele num: 17062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.440G>A
  hgvsp: ENSP00000433240.1:p.Arg147Gln
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+34G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+34G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+34G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+34G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+34G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.564G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+34G>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+34G>A
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21942
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28124
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg147Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

11-46404336-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404336
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404336
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 16952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+38G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.568G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+38G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.444G>C
  hgvsp: ENST00000489525.1:c.444G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+38G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+38G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+38G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+38G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+38G>C
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19981
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly148Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

11-46404337-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404337
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404337
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 15142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.569G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+39G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+39G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.445G>C
  hgvsp: ENSP00000433240.1:p.Ala149Pro
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+39G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+39G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+39G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+39G>C
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+39G>C
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18516
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24906
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala149Pro
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: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-46404337-GCTGCCCCCCCCCCCCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404337
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404320
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 15142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsp: ENSP00000433240.1:p.Ala150ProfsTer11
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18516
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24906
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala150ProfsTer11
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: GCTGCCCCCCCCCCCCCC
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

11-46404338-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404338
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404338
    reference: chr 11
allele count: 1
allele frequency: 4.003202562049639e-4
allele num: 2498
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+40C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+40C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+40C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+40C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+40C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+40C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.570C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.446C>G
  hgvsp: ENSP00000433240.1:p.Ala149Gly
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+40C>G
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13600
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala149Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

11-46404340-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404340
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404339
    reference: chr 11
allele count: 88
allele frequency: 5.231866825208085e-2
allele num: 1682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+57delC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+57delC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+57delC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.463delC
  hgvsp: ENSP00000433240.1:p.Arg155AlafsTer9
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+57delC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+57delC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+57delC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+57delC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.587delC
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 7.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 8
hgvs: p.Arg155AlafsTer9
num of homozygotes: 10
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: GC
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

11-46404340-GCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404340
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404338
    reference: chr 11
allele count: 104
allele frequency: 6.183115338882283e-2
allele num: 1682
alternate allele: G
canonical: false
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 2.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 7.5e0
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 24811
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 1.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 3
num of homozygotes: 7
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
  type: Population
  allele count: 11
  allele frequency: 1.145833333333333e-1
  allele num: 96
  num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 3.03030303030303e-2
  allele num: 66
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 2
  allele frequency: 1.25e-1
  allele num: 16
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: GCC
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

11-46404340-GCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404340
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404337
    reference: chr 11
allele count: 322
allele frequency: 1.914387633769322e-1
allele num: 1682
alternate allele: G
canonical: false
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 7.5e0
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.25e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 7.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 24811
  bin: 2.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 1.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 6.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 12
num of homozygotes: 20
population: Latino
  type: Population
  allele count: 4
  allele frequency: 1.333333333333333e-1
  allele num: 30
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
  type: Population
  allele count: 14
  allele frequency: 1.458333333333333e-1
  allele num: 96
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 3
  allele frequency: 1.875e-1
  allele num: 16
  num of homozygotes: 1
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: GCCC
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

11-46404340-GCCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404340
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404336
    reference: chr 11
allele count: 307
allele frequency: 1.825208085612366e-1
allele num: 1682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+54_238+57delCCCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+54_406+57delCCCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+54_406+57delCCCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+54_406+57delCCCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.584_587delCCCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.460_463delCCCC
  hgvsp: ENSP00000433240.1:p.Pro154AlafsTer9
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+54_396+57delCCCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+54_406+57delCCCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+54_406+57delCCCC
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 7.5e0
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 2.5e0
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 6.75e1
  variant carriers: 19
hgvs: p.Pro154AlafsTer9
num of homozygotes: 11
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GCCCC
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

11-46404340-GCCCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404340
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404335
    reference: chr 11
allele count: 18
allele frequency: 1.070154577883472e-2
allele num: 1682
alternate allele: G
canonical: false
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24811
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 96
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: GCCCCC
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

11-46404340-GCCCCCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404340
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404334
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 1682
alternate allele: G
canonical: false
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24811
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 830
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 96
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: GCCCCCC
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-46404344-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404344
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404344
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 8582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+46C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+46C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+46C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+46C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+46C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.452C>A
  hgvsp: ENSP00000433240.1:p.Pro151His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+46C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.576C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+46C>A
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Pro151His
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

11-46404344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404344
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404344
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 8582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+46C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+46C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+46C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.576C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+46C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+46C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.452C>T
  hgvsp: ENSP00000433240.1:p.Pro151Leu
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+46C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+46C>T
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21663
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro151Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/11-46404345-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404345
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404345
    reference: chr 11
allele count: 4
allele frequency: 3.558718861209965e-4
allele num: 11240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.453C>A
  hgvsp: ENST00000489525.1:c.453C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+47C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+47C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.577C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+47C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+47C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+47C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+47C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+47C>A
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro151Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-46404345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404345
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404345
    reference: chr 11
allele count: 1
allele frequency: 8.896797153024912e-5
allele num: 11240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+47C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.577C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+47C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+47C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.453C>T
  hgvsp: ENST00000489525.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+47C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+47C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+47C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+47C>T
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro151Pro
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

11-46404345-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404345
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404345
    reference: chr 11
allele count: 1
allele frequency: 8.896797153024912e-5
allele num: 11240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.453C>G
  hgvsp: ENST00000489525.1:c.453C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+47C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+47C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+47C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.577C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+47C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+47C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+47C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+47C>G
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro151Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-46404346-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404346
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404346
    reference: chr 11
allele count: 3
allele frequency: 2.151771625304834e-4
allele num: 13942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.578C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.454C>A
  hgvsp: ENSP00000433240.1:p.Pro152Thr
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+48C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+48C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+48C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+48C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+48C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+48C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+48C>A
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25061
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4521
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro152Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-46404346-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404346
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404347
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 13942
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+48_406+49insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.454_455insT
  hgvsp: ENSP00000433240.1:p.Pro152LeufsTer15
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+48_396+49insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+48_406+49insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+48_406+49insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+48_238+49insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.578_579insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+48_406+49insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+48_406+49insT
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: frameshift
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25061
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4619
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro152LeufsTer15
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-46404347-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404347
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404347
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 14516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+49C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.455C>A
  hgvsp: ENSP00000433240.1:p.Pro152His
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+49C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+49C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+49C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+49C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+49C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.579C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+49C>A
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25983
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro152His
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: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

11-46404347-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404347
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404348
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 14516
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+49_396+50insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+49_406+50insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+49_406+50insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+49_406+50insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.579_580insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+49_406+50insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.455_456insT
  hgvsp: ENSP00000433240.1:p.Arg155ProfsTer12
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+49_406+50insT
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+49_238+50insT
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: frameshift
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25983
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24576
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg155ProfsTer12
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

11-46404347-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404347
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404347
    reference: chr 11
allele count: 1
allele frequency: 6.888950124001103e-5
allele num: 14516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+49C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+49C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+49C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.579C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+49C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+49C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+49C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.455C>G
  hgvsp: ENSP00000433240.1:p.Pro152Arg
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+49C>G
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25983
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5223
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro152Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/11-46404348-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404348
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404348
    reference: chr 11
allele count: 90
allele frequency: 6.199200991872158e-3
allele num: 14518
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+50C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.580C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+50C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+50C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+50C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+50C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.456C>A
  hgvsp: ENST00000489525.1:c.456C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+50C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+50C>A
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26305
  bin: 2.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13818
  bin: 7.5e0
  variant carriers: 157
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 1.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 2.5e0
  variant carriers: 26
hgvs: p.Pro152Pro
num of homozygotes: 11
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-46404348-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404348
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404348
    reference: chr 11
allele count: 1
allele frequency: 6.888001102080176e-5
allele num: 14518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.580C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+50C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+50C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+50C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+50C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.456C>G
  hgvsp: ENST00000489525.1:c.456C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+50C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+50C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+50C>G
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro152Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-46404349-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404349
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404349
    reference: chr 11
allele count: 4
allele frequency: 2.745744096650192e-4
allele num: 14568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+51C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+51C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.457C>A
  hgvsp: ENSP00000433240.1:p.Pro153Thr
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+51C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+51C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.581C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+51C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+51C>A
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+51C>A
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26684
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5691
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Pro153Thr
num of homozygotes: 1
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

11-46404349-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404349
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404349
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 14568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.457C>T
  hgvsp: ENSP00000433240.1:p.Pro153Ser
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.581C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+51C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+51C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+51C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+51C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+51C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+51C>T
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+51C>T
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26684
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25481
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro153Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

11-46404349-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404349
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404349
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 14568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+51C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+51C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.581C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+51C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+51C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.457C>G
  hgvsp: ENSP00000433240.1:p.Pro153Ala
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+51C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+51C>G
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+51C>G
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26684
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25481
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro153Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

11-46404350-C-CCCCCCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404350
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404356
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 14472
alternate allele: CCCCCCG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+55_406+60dupCCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+55_396+60dupCCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.461_466dupCCCGCC
  hgvsp: ENSP00000433240.1:p.Pro154_Arg155dup
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+55_406+60dupCCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+55_406+60dupCCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.585_590dupCCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+55_238+60dupCCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+55_406+60dupCCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+55_406+60dupCCCGCC
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: inframe insertion
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26907
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13755
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro154_Arg155dup
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

11-46404350-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404350
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404351
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 14472
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.458_459insG
  hgvsp: ENSP00000433240.1:p.Arg155ProfsTer12
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+52_396+53insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+52_406+53insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+52_406+53insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+52_406+53insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+52_406+53insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.582_583insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+52_406+53insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+52_238+53insG
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: frameshift
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26907
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5644
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg155ProfsTer12
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

11-46404350-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404350
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404350
    reference: chr 11
allele count: 6
allele frequency: 4.145936981757877e-4
allele num: 14472
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26907
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13755
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25465
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3610
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5644
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 568
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 196
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 5
  allele frequency: 9.290226681531029e-4
  allele num: 5382
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7410
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

11-46404351-C-CCCCCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404351
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404356
    reference: chr 11
allele count: 26
allele frequency: 1.774017467248908e-3
allele num: 14656
alternate allele: CCCCCG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+56_406+60dupCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+56_238+60dupCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+56_396+60dupCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.586_590dupCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+56_406+60dupCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+56_406+60dupCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+56_406+60dupCCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.462_466dupCCGCC
  hgvsp: ENSP00000433240.1:p.Leu156ProfsTer10
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+56_406+60dupCCGCC
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 7.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 27671
  bin: 2.5e0
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6892
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 4
hgvs: p.Leu156ProfsTer10
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

11-46404351-C-CCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404351
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404353
    reference: chr 11
allele count: 27
allele frequency: 1.842248908296943e-3
allele num: 14656
alternate allele: CCG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.584_585insGC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+54_406+55insGC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+54_406+55insGC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+54_406+55insGC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+54_238+55insGC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+54_406+55insGC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+54_406+55insGC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.460_461insGC
  hgvsp: ENSP00000433240.1:p.Pro154ArgfsTer11
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+54_396+55insGC
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 27671
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26491
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.75e1
  variant carriers: 2
hgvs: p.Pro154ArgfsTer11
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

11-46404351-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404351
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404352
    reference: chr 11
allele count: 6
allele frequency: 4.093886462882096e-4
allele num: 14656
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.459_460insG
  hgvsp: ENSP00000433240.1:p.Pro154AlafsTer13
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+53_406+54insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.583_584insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+53_396+54insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+53_406+54insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+53_406+54insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+53_406+54insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+53_238+54insG
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+53_406+54insG
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27671
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26491
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Pro154AlafsTer13
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: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

11-46404351-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404351
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404351
    reference: chr 11
allele count: 3
allele frequency: 2.046943231441048e-4
allele num: 14656
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27671
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6892
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26491
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 2.711496746203905e-4
  allele num: 7376
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.803101334294987e-4
  allele num: 5546
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 354
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 608
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-46404352-C-CCCCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46404352
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46404356
    reference: chr 11
allele count: 10
allele frequency: 7.179781734635267e-4
allele num: 13928
alternate allele: CCCCG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000384034
  ensembl transcript: ENST00000407067
  gene symbol: MDK
  hgvsc: ENST00000407067.1:c.406+57_406+60dupCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378936
  ensembl transcript: ENST00000395569
  gene symbol: MDK
  hgvsc: ENST00000395569.4:c.238+57_238+60dupCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000433240
  ensembl transcript: ENST00000489525
  gene symbol: MDK
  hgvsc: ENST00000489525.1:c.463_466dupCGCC
  hgvsp: ENSP00000433240.1:p.Leu156ProfsTer12
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378932
  ensembl transcript: ENST00000395565
  gene symbol: MDK
  hgvsc: ENST00000395565.1:c.406+57_406+60dupCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000385451
  ensembl transcript: ENST00000405308
  gene symbol: MDK
  hgvsc: ENST00000405308.2:c.406+57_406+60dupCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000352852
  ensembl transcript: ENST00000359803
  gene symbol: MDK
  hgvsc: ENST00000359803.3:c.406+57_406+60dupCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000490240
  gene symbol: MDK
  hgvsc: ENST00000490240.1:n.587_590dupCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl transcript: ENST00000533283
  gene symbol: MDK
  hgvsc: ENST00000533283.1:n.396+57_396+60dupCGCC
  variant of: http://identifiers.org/hgnc/6972
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110492
  ensembl protein: ENSP00000378933
  ensembl transcript: ENST00000395566
  gene symbol: MDK
  hgvsc: ENST00000395566.4:c.406+57_406+60dupCGCC
  variant of: http://identifiers.org/hgnc/6972
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28079
  bin: 2.5e0
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Leu156ProfsTer12
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 24103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 725
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.106149957877001e-4
allele num: 4748
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.271298593879239e-5
allele num: 12090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 8.58461e5

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: -2.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

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

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

GenotypeQuality
all individuals: 789
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3734
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.397161760475597e-5
allele num: 41716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

QD
type: SiteQuality
SIO_000300: 3.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.912e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.10105e5

MQ
type: SiteQuality
SIO_000300: 5.855e1

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

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19880
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1938
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.705347511172754e-5
allele num: 12978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44686
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 9.70372e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

FS
type: SiteQuality
SIO_000300: 7.617e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

GenotypeDepth
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.188212927756654e-4
allele num: 8416
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47566
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.024828e6

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.35e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.577e1

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 767
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 764
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.102342008998024e-5
allele num: 47566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
SIO_000300: 5.93e1

DP
type: SiteQuality
SIO_000300: 1.024828e6

FS
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.577e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.35e-1

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 371
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33307
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.993223041658361e-5
allele num: 50170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13778
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.075227e6

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e0

VQSLOD
type: SiteQuality
SIO_000300: -1.932e0

FS
type: SiteQuality
SIO_000300: 1.2129e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

GenotypeDepth
all individuals: 41
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.937699458859442e-5
allele num: 14414
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 54372
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Latino
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num of homozygotes: 0

Other
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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InbreedingCoeff
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SIO_000300: 3.9e-3

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.013787510137875e-4
allele num: 9864
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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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InbreedingCoeff
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MQRankSum
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FS
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 55420
num of homozygotes: 0

African
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South Asian
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Other
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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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: 15

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 7.072886091169502e-5
allele num: 56554
num of homozygotes: 0

European (Finnish)
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allele count: 10
allele frequency: 2.112378538234051e-3
allele num: 4734
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

Other
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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

European (Non-Finnish)
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num of homozygotes: 0

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

South Asian
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East Asian
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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FS
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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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 frequency: 2.520161290322581e-4
allele num: 7936
num of homozygotes: 0

European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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Other
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 2.511931675458427e-4
allele num: 7962
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

European (Non-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

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

Other
type: Population
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allele frequency: 1.305483028720627e-3
allele num: 766
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-3

FS
type: SiteQuality
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QD
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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SIO_000300: -2.054e0

MQRankSum
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SIO_000300: 5.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 792
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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.673248109229637e-5
allele num: 59764
num of homozygotes: 0

South Asian
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
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SIO_000300: 1.36e0

ReadPosRankSum
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DP
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VQSLOD
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FS
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SIO_000300: 7.254e0

MQRankSum
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SIO_000300: -4.05e-1

BaseQRankSum
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SIO_000300: 2.07e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.865e1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60416
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15422
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.21654501216545e-4
allele num: 8220
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8790
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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

VQSLOD
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SIO_000300: -1.01e0

MQ
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SIO_000300: 5.905e1

InbreedingCoeff
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SIO_000300: -7.0e-4

FS
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ClippingRankSum
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SIO_000300: -1.27e0

MQRankSum
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SIO_000300: -9.5e-1

QD
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DP
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ReadPosRankSum
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SIO_000300: 8.7e-1

GenotypeDepth
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.652400938563733e-5
allele num: 60518
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

ClippingRankSum
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InbreedingCoeff
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FS
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DP
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QD
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SIO_000300: 1.24e1

MQRankSum
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VQSLOD
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SIO_000300: -2.114e0

BaseQRankSum
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.82e1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15514
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.639935714519991e-5
allele num: 60978
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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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 2.199736031676199e-4
allele num: 9092
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Latino
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South Asian
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European (Finnish)
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VQSLOD
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QD
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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African
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Latino
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.614569878584345e-5
allele num: 61936
num of homozygotes: 0

African
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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 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: 830
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.737317581653926e-4
allele num: 5756
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

FS
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SIO_000300: 1.018e0

MQ
type: SiteQuality
SIO_000300: 5.625e1

BaseQRankSum
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SIO_000300: 6.94e-1

DP
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SIO_000300: 1.31967e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
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SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.148e1

VQSLOD
type: SiteQuality
SIO_000300: -1.767e0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61968
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.130752373995617e-5
allele num: 10952
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: 2
allele frequency: 2.184837229626393e-4
allele num: 9154
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.6e0

VQSLOD
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SIO_000300: 2.96e-1

ReadPosRankSum
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SIO_000300: 4.52e-1

DP
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MQRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 3.293e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10952
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62046
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

South Asian
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allele frequency: 6.382435537401073e-5
allele num: 15668
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.107e0

DP
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SIO_000300: 1.32467e6

ClippingRankSum
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SIO_000300: -1.398e0

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.275e1

BaseQRankSum
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SIO_000300: -8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.72e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3687
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
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
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.212748184797276e-5
allele num: 62252
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

BaseQRankSum
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SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.328292e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

FS
type: SiteQuality
SIO_000300: 2.677e0

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 64
bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.149130832570906e-5
allele num: 10930
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61690
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

BaseQRankSum
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SIO_000300: -1.034e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

InbreedingCoeff
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SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.315531e6

FS
type: SiteQuality
SIO_000300: 1.035e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

QD
type: SiteQuality
SIO_000300: 8.56e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15218
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.42306760358614e-4
allele num: 8254
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59670
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

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

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

Other
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allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

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

South Asian
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allele frequency: 6.572893387669252e-5
allele num: 15214
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

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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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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SIO_000300: 5.824e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23
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variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.871958068139274e-4
allele num: 10684
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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South Asian
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

BaseQRankSum
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VQSLOD
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SIO_000300: -1.384e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

DP
type: SiteQuality
SIO_000300: 1.248632e6

FS
type: SiteQuality
SIO_000300: 5.352e0

MQ
type: SiteQuality
SIO_000300: 5.765e1

QD
type: SiteQuality
SIO_000300: 9.65e0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 41843
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.21654501216545e-4
allele num: 8220
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10684
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59424
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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

FS
type: SiteQuality
SIO_000300: 5.352e0

VQSLOD
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ReadPosRankSum
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QD
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SIO_000300: 9.65e0

ClippingRankSum
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SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.765e1

BaseQRankSum
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SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.248632e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14898
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728907330567082e-5
allele num: 57840
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.36e-1

MQ
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SIO_000300: 5.892e1

QD
type: SiteQuality
SIO_000300: 8.98e0

ReadPosRankSum
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SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

DP
type: SiteQuality
SIO_000300: 1.187244e6

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 64
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variant carriers: 2

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728907330567082e-5
allele num: 57840
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.241310824230387e-4
allele num: 8056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10518
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.187244e6

FS
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 8.98e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

BaseQRankSum
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SIO_000300: -3.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

GenotypeDepth
all individuals: 10490
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8018
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14854
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 9.54380606986066e-5
allele num: 10478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57566
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 784
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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.66e-1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

FS
type: SiteQuality
SIO_000300: 1.536e0

BaseQRankSum
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SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.706e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 7.98e0

DP
type: SiteQuality
SIO_000300: 1.177279e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5268
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.83477576711251e-5
allele num: 10168
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55868
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.663003663003663e-4
allele num: 8190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

VQSLOD
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SIO_000300: -2.421e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12876
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.576292559899117e-4
allele num: 6344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43950
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
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Latino
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allele num: 8550
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QD
type: SiteQuality
SIO_000300: 1.116e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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MQ
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 5654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3206
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.449539486576524e-5
allele num: 40824
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.476e0

MQRankSum
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.015e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.686e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

DP
type: SiteQuality
SIO_000300: 4.9225e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.361655773420479e-4
allele num: 7344
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.37e-2

MQ
type: SiteQuality
SIO_000300: 5.616e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.55e-1

FS
type: SiteQuality
SIO_000300: 2.1356e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

DP
type: SiteQuality
SIO_000300: 4.69062e5

VQSLOD
type: SiteQuality
SIO_000300: -1.47e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.46257e5

VQSLOD
type: SiteQuality
SIO_000300: -9.891e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 4.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.662e1

GenotypeQuality
all individuals: 480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.787e1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 4.31379e5

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 3526
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-1

DP
type: SiteQuality
SIO_000300: 4.31379e5

MQ
type: SiteQuality
SIO_000300: 5.787e1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 3.67e0

GenotypeQuality
all individuals: 33
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9942
bin: 7.5e0
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607717041800643e-3
allele num: 622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

DP
type: SiteQuality
SIO_000300: 3.34711e5

QD
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.653e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 3.6409e1

MQ
type: SiteQuality
SIO_000300: 5.806e1

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 9

GenotypeQuality
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bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 202
bin: 2.25e1
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GenotypeQuality
all individuals: 22
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variant carriers: 3

GenotypeQuality
all individuals: 30
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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: 5

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 572
bin: 1.25e1
variant carriers: 18

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 34
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 335
bin: 1.75e1
variant carriers: 17

Other
type: Population
allele count: 1
allele frequency: 6.25e-2
allele num: 16
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.333333333333333e-2
allele num: 30
num of homozygotes: 0

South Asian
type: Population
allele count: 51
allele frequency: 6.144578313253012e-2
allele num: 830
num of homozygotes: 6

African
type: Population
allele count: 4
allele frequency: 4.166666666666666e-2
allele num: 96
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.658385093167702e-2
allele num: 644
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.515151515151515e-2
allele num: 66
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.694e1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

QD
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SIO_000300: 1.351e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.709e0

DP
type: SiteQuality
SIO_000300: 2.98751e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.042999999999999e-1

FS
type: SiteQuality
SIO_000300: 8.9911e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

South Asian
type: Population
allele count: 51
allele frequency: 6.144578313253012e-2
allele num: 830
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 5.124223602484472e-2
allele num: 644
num of homozygotes: 2

Latino
type: Population
allele count: 5
allele frequency: 1.666666666666667e-1
allele num: 30
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.351e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.9911e1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.042999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.98751e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

MQ
type: SiteQuality
SIO_000300: 5.694e1

East Asian
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allele count: 4
allele frequency: 6.060606060606061e-2
allele num: 66
num of homozygotes: 0

South Asian
type: Population
allele count: 162
allele frequency: 1.951807228915663e-1
allele num: 830
num of homozygotes: 13

European (Non-Finnish)
type: Population
allele count: 135
allele frequency: 2.096273291925466e-1
allele num: 644
num of homozygotes: 6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.042999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.709e0

FS
type: SiteQuality
SIO_000300: 8.9911e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.694e1

DP
type: SiteQuality
SIO_000300: 2.98751e5

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
all individuals: 25
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variant carriers: 14

GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 572
bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 63
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GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 313
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GenotypeQuality
all individuals: 335
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GenotypeQuality
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GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 13

Latino
type: Population
allele count: 5
allele frequency: 1.666666666666667e-1
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.515151515151515e-2
allele num: 66
num of homozygotes: 0

South Asian
type: Population
allele count: 159
allele frequency: 1.91566265060241e-1
allele num: 830
num of homozygotes: 8

Other
type: Population
allele count: 1
allele frequency: 6.25e-2
allele num: 16
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.375e-2
allele num: 96
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 132
allele frequency: 2.049689440993789e-1
allele num: 644
num of homozygotes: 3

FS
type: SiteQuality
SIO_000300: 8.9911e1

MQ
type: SiteQuality
SIO_000300: 5.694e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 2.98751e5

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.042999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.709e0

QD
type: SiteQuality
SIO_000300: 1.351e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.552795031055901e-2
allele num: 644
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 9.638554216867471e-3
allele num: 830
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.9911e1

MQ
type: SiteQuality
SIO_000300: 5.694e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.351e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.042999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
SIO_000300: 2.98751e5

VQSLOD
type: SiteQuality
SIO_000300: -2.709e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQ
type: SiteQuality
SIO_000300: 5.694e1

DP
type: SiteQuality
SIO_000300: 2.98751e5

QD
type: SiteQuality
SIO_000300: 1.351e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.042999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.709e0

FS
type: SiteQuality
SIO_000300: 8.9911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

GenotypeQuality
all individuals: 2759
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9721
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 5.087e0

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.012e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 3.06371e5

MQ
type: SiteQuality
SIO_000300: 5.926e1

QD
type: SiteQuality
SIO_000300: 3.31e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

QD
type: SiteQuality
SIO_000300: 3.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.012e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 5.087e0

DP
type: SiteQuality
SIO_000300: 3.06371e5

GenotypeQuality
all individuals: 43
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 6.727211570803902e-4
allele num: 5946
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.826e-1

QD
type: SiteQuality
SIO_000300: 7.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 3.21802e5

FS
type: SiteQuality
SIO_000300: 8.941000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
all individuals: 940
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.681802892700975e-4
allele num: 5946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3938
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 8.941000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.826e-1

DP
type: SiteQuality
SIO_000300: 3.21802e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 7.67e0

GenotypeQuality
all individuals: 7128
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.681802892700975e-4
allele num: 5946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 8.941000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.826e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.172e0

QD
type: SiteQuality
SIO_000300: 7.67e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

DP
type: SiteQuality
SIO_000300: 3.21802e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.879699248120301e-3
allele num: 532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.780094523213789e-4
allele num: 7194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.21226e5

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.17e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.204e0

QD
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7194
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.21226e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.527e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.19878e5

GenotypeQuality
all individuals: 4075
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 75
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.527e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.19878e5

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1080
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GenotypeQuality
all individuals: 1210
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.860811313732788e-4
allele num: 5374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.244e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.527e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 3.19878e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 12

GenotypeQuality
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bin: 2.25e1
variant carriers: 19

GenotypeQuality
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bin: 1.25e1
variant carriers: 44

GenotypeQuality
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variant carriers: 34

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 8.25e1
variant carriers: 3

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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bin: 5.25e1
variant carriers: 6

GenotypeQuality
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bin: 2.75e1
variant carriers: 22

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 9

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 36

African
type: Population
allele count: 5
allele frequency: 8.741258741258742e-3
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.474382602285293e-3
allele num: 5426
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 30
allele frequency: 7.177033492822966e-2
allele num: 418
num of homozygotes: 6

South Asian
type: Population
allele count: 44
allele frequency: 5.933117583603021e-3
allele num: 7416
num of homozygotes: 4

Other
type: Population
allele count: 1
allele frequency: 6.493506493506494e-3
allele num: 154
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 6.024096385542169e-3
allele num: 332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.838e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 2.0018e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

DP
type: SiteQuality
SIO_000300: 3.18833e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.83e-2

GenotypeQuality
all individuals: 24919
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 911
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.842978252856616e-4
allele num: 5426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.838e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

FS
type: SiteQuality
SIO_000300: 2.0018e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.83e-2

DP
type: SiteQuality
SIO_000300: 3.18833e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.383580080753701e-4
allele num: 7430
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4683e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 3.18341e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.263e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.509e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

GenotypeQuality
all individuals: 902
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 78
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 75
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GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.509e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

DP
type: SiteQuality
SIO_000300: 3.18341e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.4683e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
all individuals: 4501
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

FS
type: SiteQuality
SIO_000300: 1.4683e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.509e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.18341e5

GenotypeQuality
all individuals: 256
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5644
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4480
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 3.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.75e1
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GenotypeQuality
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 1049
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 280
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 2.12e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.535e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.17646e5

GenotypeQuality
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3853
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4480
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25465
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.535e-1

DP
type: SiteQuality
SIO_000300: 3.17646e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 2.12e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.994011976047904e-3
allele num: 334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

QD
type: SiteQuality
SIO_000300: 2.12e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.535e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 3.17646e5

GenotypeQuality
all individuals: 61
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 989
bin: 2.75e1
variant carriers: 11

GenotypeQuality
all individuals: 3363
bin: 2.5e0
variant carriers: 13

GenotypeQuality
all individuals: 81
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1829
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 26491
bin: 7.5e0
variant carriers: 11

GenotypeQuality
all individuals: 489
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2960
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4151
bin: 1.25e1
variant carriers: 11

GenotypeQuality
all individuals: 124
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 346
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 118
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.803101334294987e-4
allele num: 5546
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 3.389370932754881e-3
allele num: 7376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.45e0

DP
type: SiteQuality
SIO_000300: 3.21584e5

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.137e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.469e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 989
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6892
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2960
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 27
allele frequency: 3.660520607375271e-3
allele num: 7376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.21584e5

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.469e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.137e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 6.45e0

GenotypeQuality
all individuals: 6892
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4151
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3363
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 118
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 1

South Asian
type: Population
allele count: 5
allele frequency: 6.778741865509761e-4
allele num: 7376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.803101334294987e-4
allele num: 5546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 6.45e0

DP
type: SiteQuality
SIO_000300: 3.21584e5

MQ
type: SiteQuality
SIO_000300: 5.469e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.137e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.137e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.469e1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 6.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 3.21584e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1