17-56293499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293499
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293499
    reference: chr 17
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.367C>T
  hgvsp: ENSP00000462423.1:p.Arg123Ter
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.367C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.337C>T
  hgvsp: ENSP00000442096.2:p.Arg113Ter
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-145C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.367C>T
  hgvsp: ENSP00000376827.2:p.Arg123Ter
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.367C>T
  hgvsp: ENSP00000376828.2:p.Arg123Ter
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.367C>T
  hgvsp: ENSP00000338407.7:p.Arg123Ter
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.367C>T
  hgvsp: ENSP00000316631.6:p.Arg123Ter
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1300C>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg123Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-56293501-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293501
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293501
    reference: chr 17
allele count: 10
allele frequency: 8.280613427842735e-5
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-147A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.365A>C
  hgvsp: ENSP00000338407.7:p.Asn122Thr
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.365A>C
  hgvsp: ENSP00000376827.2:p.Asn122Thr
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.365A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.365A>C
  hgvsp: ENSP00000462423.1:p.Asn122Thr
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1302A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.365A>C
  hgvsp: ENSP00000316631.6:p.Asn122Thr
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.365A>C
  hgvsp: ENSP00000376828.2:p.Asn122Thr
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.335A>C
  hgvsp: ENSP00000442096.2:p.Asn112Thr
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*108A>C
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Asn122Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/17-56293506-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293506
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293506
    reference: chr 17
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.360G>T
  hgvsp: ENSP00000376828.2:p.Lys120Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.360G>T
  hgvsp: ENSP00000376827.2:p.Lys120Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1307G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-152G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.360G>T
  hgvsp: ENSP00000316631.6:p.Lys120Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.360G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.360G>T
  hgvsp: ENSP00000338407.7:p.Lys120Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*103G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.330G>T
  hgvsp: ENSP00000442096.2:p.Lys110Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.360G>T
  hgvsp: ENSP00000462423.1:p.Lys120Asn
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys120Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-56293506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293506
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293506
    reference: chr 17
allele count: 11
allele frequency: 9.10852392229601e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.360G>A
  hgvsp: ENST00000313863.6:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-152G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.330G>A
  hgvsp: ENST00000537529.2:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.360G>A
  hgvsp: ENST00000393120.2:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.360G>A
  hgvsp: ENST00000580127.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1307G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.360G>A
  hgvsp: ENST00000337050.7:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.360G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.360G>A
  hgvsp: ENST00000393119.2:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys120Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

17-56293507-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293507
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293507
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.359A>G
  hgvsp: ENSP00000316631.6:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-153A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*102A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.359A>G
  hgvsp: ENSP00000338407.7:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.329A>G
  hgvsp: ENSP00000442096.2:p.Lys110Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.359A>G
  hgvsp: ENSP00000462423.1:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.359A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.359A>G
  hgvsp: ENSP00000376827.2:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.359A>G
  hgvsp: ENSP00000376828.2:p.Lys120Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1308A>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys120Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

17-56293515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293515
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293515
    reference: chr 17
allele count: 4
allele frequency: 3.31208081477188e-5
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.351G>A
  hgvsp: ENST00000393120.2:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.351G>A
  hgvsp: ENST00000313863.6:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.351G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.351G>A
  hgvsp: ENST00000580127.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.321G>A
  hgvsp: ENST00000537529.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-161G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.351G>A
  hgvsp: ENST00000337050.7:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.351G>A
  hgvsp: ENST00000393119.2:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1316G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*94G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser117Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-56293516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293516
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293516
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.350C>T
  hgvsp: ENSP00000376828.2:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*93C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.350C>T
  hgvsp: ENSP00000316631.6:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.320C>T
  hgvsp: ENSP00000442096.2:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-162C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.350C>T
  hgvsp: ENSP00000376827.2:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.350C>T
  hgvsp: ENSP00000338407.7:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1317C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.350C>T
  hgvsp: ENSP00000462423.1:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.350C>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser117Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-56293521-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293521
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293521
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.345G>T
  hgvsp: ENSP00000316631.6:p.Glu115Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.345G>T
  hgvsp: ENSP00000376827.2:p.Glu115Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.315G>T
  hgvsp: ENSP00000442096.2:p.Glu105Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.345G>T
  hgvsp: ENSP00000462423.1:p.Glu115Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1322G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.345G>T
  hgvsp: ENSP00000376828.2:p.Glu115Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.345G>T
  hgvsp: ENSP00000338407.7:p.Glu115Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.345G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-167G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*88G>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu115Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-56293543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293543
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293543
    reference: chr 17
allele count: 21
allele frequency: 1.73910162978667e-4
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.323G>A
  hgvsp: ENSP00000376827.2:p.Arg108His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.323G>A
  hgvsp: ENSP00000316631.6:p.Arg108His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.323G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.323G>A
  hgvsp: ENSP00000338407.7:p.Arg108His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.323G>A
  hgvsp: ENSP00000376828.2:p.Arg108His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1344G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.293G>A
  hgvsp: ENSP00000442096.2:p.Arg98His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-189G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.323G>A
  hgvsp: ENSP00000462423.1:p.Arg108His
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6469
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg108His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-56293544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293544
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293544
    reference: chr 17
allele count: 8
allele frequency: 6.625258799171843e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.322C>T
  hgvsp: ENSP00000376827.2:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.322C>T
  hgvsp: ENSP00000338407.7:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.322C>T
  hgvsp: ENSP00000316631.6:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-190C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.322C>T
  hgvsp: ENSP00000376828.2:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1345C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.292C>T
  hgvsp: ENSP00000442096.2:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.322C>T
  hgvsp: ENSP00000462423.1:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.322C>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg108Cys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

17-56293553-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293553
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293553
    reference: chr 17
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1354T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.313T>C
  hgvsp: ENSP00000338407.7:p.Tyr105His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.283T>C
  hgvsp: ENSP00000442096.2:p.Tyr95His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*56T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.313T>C
  hgvsp: ENSP00000316631.6:p.Tyr105His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.313T>C
  hgvsp: ENSP00000462423.1:p.Tyr105His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.313T>C
  hgvsp: ENSP00000376827.2:p.Tyr105His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.313T>C
  hgvsp: ENSP00000376828.2:p.Tyr105His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-199T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.313T>C
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr105His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-56293558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293558
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293558
    reference: chr 17
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.308T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.308T>C
  hgvsp: ENSP00000376828.2:p.Leu103Ser
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.308T>C
  hgvsp: ENSP00000316631.6:p.Leu103Ser
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.308T>C
  hgvsp: ENSP00000462423.1:p.Leu103Ser
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.308T>C
  hgvsp: ENSP00000376827.2:p.Leu103Ser
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1359T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*51T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.278T>C
  hgvsp: ENSP00000442096.2:p.Leu93Ser
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.308T>C
  hgvsp: ENSP00000338407.7:p.Leu103Ser
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-204T>C
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu103Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

17-56293584-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293584
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293584
    reference: chr 17
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1385A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.282A>G
  hgvsp: ENST00000393119.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.282A>G
  hgvsp: ENST00000337050.7:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.282A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.282A>G
  hgvsp: ENST00000313863.6:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.282A>G
  hgvsp: ENST00000393120.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.282A>G
  hgvsp: ENST00000580127.1:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.252A>G
  hgvsp: ENST00000537529.2:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-230A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*25A>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln94Gln
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

17-56293587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293587
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293587
    reference: chr 17
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.279C>T
  hgvsp: ENST00000393120.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*22C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.249C>T
  hgvsp: ENST00000537529.2:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.279C>T
  hgvsp: ENST00000313863.6:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.279C>T
  hgvsp: ENST00000337050.7:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.279C>T
  hgvsp: ENST00000580127.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.279C>T
  hgvsp: ENST00000393119.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-233C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.279C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1388C>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr93Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

17-56293590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293590
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293590
    reference: chr 17
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.276G>A
  hgvsp: ENST00000313863.6:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.276G>A
  hgvsp: ENST00000393120.2:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.246G>A
  hgvsp: ENST00000537529.2:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-236G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1391G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.276G>A
  hgvsp: ENST00000337050.7:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.276G>A
  hgvsp: ENST00000580127.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.276G>A
  hgvsp: ENST00000393119.2:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.276G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu92Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-56293597-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293597
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293597
    reference: chr 17
allele count: 1
allele frequency: 8.305509875251242e-6
allele num: 120402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.269T>C
  hgvsp: ENSP00000462423.1:p.Val90Ala
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-243T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.239T>C
  hgvsp: ENSP00000442096.2:p.Val80Ala
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.269T>C
  hgvsp: ENSP00000316631.6:p.Val90Ala
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.269T>C
  hgvsp: ENSP00000338407.7:p.Val90Ala
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.269T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.269T>C
  hgvsp: ENSP00000376828.2:p.Val90Ala
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1398T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.269T>C
  hgvsp: ENSP00000376827.2:p.Val90Ala
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val90Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-56293614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293614
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293614
    reference: chr 17
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1415G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.262-10G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.262-10G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.262-10G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.232-10G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.262-10G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*5-10G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.262-10G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-250-10G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.262-10G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

17-56293617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293617
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293617
    reference: chr 17
allele count: 1
allele frequency: 8.321959988016378e-6
allele num: 120164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.262-13A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1418A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.262-13A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.262-13A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.232-13A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*5-13A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.262-13A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-250-13A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.262-13A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.262-13A>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-56293620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293620
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293620
    reference: chr 17
allele count: 2
allele frequency: 1.664835347784104e-5
allele num: 120132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.262-16C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.262-16C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*5-16C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.262-16C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.262-16C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.262-16C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.262-16C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.232-16C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1421C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-250-16C>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

17-56293625-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293625
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293625
    reference: chr 17
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-250-21G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.232-21G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.262-21G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.262-21G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.262-21G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.262-21G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1426G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.262-21G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.262-21G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*5-21G>C
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-56293627-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293627
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293627
    reference: chr 17
allele count: 2
allele frequency: 1.665944757271849e-5
allele num: 120052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*5-23C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.262-23C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1428C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.262-23C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.262-23C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.262-23C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.232-23C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-250-23C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.262-23C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.262-23C>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36079
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-56293631-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293631
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293631
    reference: chr 17
allele count: 60
allele frequency: 4.999166805532411e-4
allele num: 120020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.262-27A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.262-27A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.262-27A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.262-27A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.232-27A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.262-27A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*5-27A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1432A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.262-27A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-250-27A>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36086
  bin: 9.75e1
  variant carriers: 59
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

17-56293631-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293631
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293631
    reference: chr 17
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.232-27A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.262-27A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1432A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.262-27A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.262-27A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.262-27A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-250-27A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.262-27A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*5-27A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.262-27A>C
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-56293632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293632
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293632
    reference: chr 17
allele count: 1
allele frequency: 8.334027835652971e-6
allele num: 119990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*5-28C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.232-28C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-250-28C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.262-28C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.262-28C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.262-28C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.262-28C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1433C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.262-28C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.262-28C>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-56293643-TATAATACATCAAACTTTTGCTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293643
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293620
    reference: chr 17
allele count: 7
allele frequency: 5.839951945538277e-5
allele num: 119864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36062
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: TATAATACATCAAACTTTTGCTTC
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-56293645-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293644
    reference: chr 17
allele count: 3
allele frequency: 2.50354669114579e-5
allele num: 119830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-250-42delT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.262-42delT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.262-42delT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.262-42delT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.262-42delT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.232-42delT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1447delT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.262-42delT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*5-42delT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.262-42delT
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: TA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

17-56293652-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293652
    reference: chr 17
allele count: 1
allele frequency: 8.350730688935283e-6
allele num: 119750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.232-48A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1453A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.262-48A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.262-48A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.262-48A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.262-48A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.262-48A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.262-48A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-250-48A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*5-48A>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-56293992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293992
    reference: chr 17
allele count: 1
allele frequency: 8.394473078924836e-6
allele num: 119126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+35C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+35C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+35C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+35C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1793C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+35C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+35C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+35C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+35C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+35C>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-56293993-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293993
    reference: chr 17
allele count: 5
allele frequency: 4.197095609837992e-5
allele num: 119130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1794C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+34C>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14230
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24734
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-56293996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293996
    reference: chr 17
allele count: 1
allele frequency: 8.387854386847844e-6
allele num: 119220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+31A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+31A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1797A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+31A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+31A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+31A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+31A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+31A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+31A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+31A>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-56293996-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56293996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293996
    reference: chr 17
allele count: 2
allele frequency: 1.677570877369569e-5
allele num: 119220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+31A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+31A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+31A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+31A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+31A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+31A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1797A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+31A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+31A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+31A>C
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

17-56294004-GAAGAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294004
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56293999
    reference: chr 17
allele count: 2
allele frequency: 1.674368762976358e-5
allele num: 119448
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+18_261+22delGTCTT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+18_261+22delGTCTT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+18_261+22delGTCTT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+18_261+22delGTCTT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+18_261+22delGTCTT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+18_261+22delGTCTT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+18_*4+22delGTCTT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+18_231+22delGTCTT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1810_191-1806delGTCTT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+18_-251+22delGTCTT
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 7.75e1
  variant carriers: 0
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: GAAGAC
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

17-56294007-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294007
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294007
    reference: chr 17
allele count: 1
allele frequency: 8.36456102783726e-6
allele num: 119552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+20C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+20C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+20C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+20C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1808C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+20C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+20C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+20C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+20C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+20C>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-56294011-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294011
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294011
    reference: chr 17
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+16T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+16T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+16T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+16T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1812T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+16T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+16T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+16T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+16T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+16T>C
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6203
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

17-56294012-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294012
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294012
    reference: chr 17
allele count: 2
allele frequency: 1.670648378635748e-5
allele num: 119714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+15C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+15C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+15C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+15C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+15C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+15C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+15C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+15C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1813C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+15C>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

17-56294014-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294014
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294014
    reference: chr 17
allele count: 1
allele frequency: 8.347106058329577e-6
allele num: 119802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+13C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+13C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+13C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+13C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+13C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+13C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+13C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+13C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+13C>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1815C>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-56294017-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294017
    reference: chr 17
allele count: 1
allele frequency: 8.339866228545694e-6
allele num: 119906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+10T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+10T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1818T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+10T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+10T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+10T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+10T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+10T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+10T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+10T>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-56294020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294020
    reference: chr 17
allele count: 30
allele frequency: 2.501375756666166e-4
allele num: 119934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.261+7C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.261+7C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.261+7C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.261+7C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.231+7C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.261+7C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.261+7C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.*4+7C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1821C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-251+7C>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18519
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15931
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.261+7C>T
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-56294039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294039
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294039
    reference: chr 17
allele count: 5
allele frequency: 4.156621498046388e-5
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.139G>A
  hgvsp: ENSP00000462411.1:p.Ala47Thr
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.249G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-263G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.249G>A
  hgvsp: ENST00000580127.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.249G>A
  hgvsp: ENST00000393120.2:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.219G>A
  hgvsp: ENST00000537529.2:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1840G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.249G>A
  hgvsp: ENST00000393119.2:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.249G>A
  hgvsp: ENST00000313863.6:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.249G>A
  hgvsp: ENST00000337050.7:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16463
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala47Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-56294052-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294052
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294052
    reference: chr 17
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.236G>T
  hgvsp: ENSP00000462423.1:p.Gly79Val
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1853G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.236G>T
  hgvsp: ENSP00000376828.2:p.Gly79Val
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.206G>T
  hgvsp: ENSP00000442096.2:p.Gly69Val
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.236G>T
  hgvsp: ENSP00000376827.2:p.Gly79Val
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.236G>T
  hgvsp: ENSP00000338407.7:p.Gly79Val
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-276G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.236G>T
  hgvsp: ENSP00000316631.6:p.Gly79Val
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.236G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.126G>T
  hgvsp: ENSP00000462411.1:p.Trp42Cys
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly79Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

17-56294053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294053
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294053
    reference: chr 17
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.235G>A
  hgvsp: ENSP00000376828.2:p.Gly79Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.125G>A
  hgvsp: ENSP00000462411.1:p.Trp42Ter
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.235G>A
  hgvsp: ENSP00000462423.1:p.Gly79Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.205G>A
  hgvsp: ENSP00000442096.2:p.Gly69Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.235G>A
  hgvsp: ENSP00000376827.2:p.Gly79Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1854G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.235G>A
  hgvsp: ENSP00000316631.6:p.Gly79Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.235G>A
  hgvsp: ENSP00000338407.7:p.Gly79Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.235G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-277G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp42Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

17-56294054-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294054
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294054
    reference: chr 17
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.124T>C
  hgvsp: ENSP00000462411.1:p.Trp42Arg
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.234T>C
  hgvsp: ENST00000393119.2:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.234T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.234T>C
  hgvsp: ENST00000393120.2:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.204T>C
  hgvsp: ENST00000537529.2:c.204T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.234T>C
  hgvsp: ENST00000313863.6:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.234T>C
  hgvsp: ENST00000580127.1:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-278T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.234T>C
  hgvsp: ENST00000337050.7:c.234T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1855T>C
  variant of: http://identifiers.org/hgnc/7121
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31030
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp42Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-56294063-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294063
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294063
    reference: chr 17
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.225G>T
  hgvsp: ENSP00000316631.6:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.115G>T
  hgvsp: ENSP00000462411.1:p.Asp39Tyr
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.225G>T
  hgvsp: ENSP00000338407.7:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-287G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.225G>T
  hgvsp: ENSP00000376828.2:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.195G>T
  hgvsp: ENSP00000442096.2:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1864G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.225G>T
  hgvsp: ENSP00000376827.2:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.225G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.225G>T
  hgvsp: ENSP00000462423.1:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu75Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

17-56294063-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294063
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294063
    reference: chr 17
allele count: 7
allele frequency: 5.814822814041966e-5
allele num: 120382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.195G>C
  hgvsp: ENSP00000442096.2:p.Glu65Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.225G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.225G>C
  hgvsp: ENSP00000376828.2:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.225G>C
  hgvsp: ENSP00000462423.1:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1864G>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.225G>C
  hgvsp: ENSP00000338407.7:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.225G>C
  hgvsp: ENSP00000316631.6:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.225G>C
  hgvsp: ENSP00000376827.2:p.Glu75Asp
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.115G>C
  hgvsp: ENSP00000462411.1:p.Asp39His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-287G>C
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu75Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-56294065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294065
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294065
    reference: chr 17
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-289G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.223G>A
  hgvsp: ENSP00000316631.6:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.193G>A
  hgvsp: ENSP00000442096.2:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.223G>A
  hgvsp: ENSP00000338407.7:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.223G>A
  hgvsp: ENSP00000462423.1:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.223G>A
  hgvsp: ENSP00000376828.2:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.113G>A
  hgvsp: ENSP00000462411.1:p.Gly38Glu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.223G>A
  hgvsp: ENSP00000376827.2:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.223G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1866G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13271
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu75Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-56294074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294074
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294074
    reference: chr 17
allele count: 2
allele frequency: 1.66237220513673e-5
allele num: 120310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1875G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.104G>A
  hgvsp: ENSP00000462411.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.184G>A
  hgvsp: ENSP00000442096.2:p.Glu62Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.214G>A
  hgvsp: ENSP00000316631.6:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.214G>A
  hgvsp: ENSP00000376828.2:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.214G>A
  hgvsp: ENSP00000338407.7:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.214G>A
  hgvsp: ENSP00000462423.1:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.214G>A
  hgvsp: ENSP00000376827.2:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-298G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.214G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu72Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-56294075-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294075
    reference: chr 17
allele count: 398
allele frequency: 3.308835755378936e-3
allele num: 120284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.183C>G
  hgvsp: ENSP00000442096.2:p.Asp61Glu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.213C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1876C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.103C>G
  hgvsp: ENSP00000462411.1:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.213C>G
  hgvsp: ENSP00000316631.6:p.Asp71Glu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.213C>G
  hgvsp: ENSP00000376828.2:p.Asp71Glu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.213C>G
  hgvsp: ENSP00000338407.7:p.Asp71Glu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-299C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.213C>G
  hgvsp: ENSP00000376827.2:p.Asp71Glu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.213C>G
  hgvsp: ENSP00000462423.1:p.Asp71Glu
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16672
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 4.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 18124
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 9.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp71Glu
num of homozygotes: 1
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

17-56294078-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294078
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294078
    reference: chr 17
allele count: 2
allele frequency: 1.662786830728301e-5
allele num: 120280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.210A>G
  hgvsp: ENST00000393120.2:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.210A>G
  hgvsp: ENST00000580127.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1879A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.100A>G
  hgvsp: ENSP00000462411.1:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.180A>G
  hgvsp: ENST00000537529.2:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.210A>G
  hgvsp: ENST00000337050.7:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.210A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.210A>G
  hgvsp: ENST00000393119.2:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.210A>G
  hgvsp: ENST00000313863.6:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-302A>G
  variant of: http://identifiers.org/hgnc/7121
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg34Gly
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: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-56294080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294080
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294080
    reference: chr 17
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.208G>A
  hgvsp: ENSP00000376827.2:p.Glu70Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.208G>A
  hgvsp: ENSP00000462423.1:p.Glu70Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.98G>A
  hgvsp: ENSP00000462411.1:p.Gly33Glu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-304G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1881G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.208G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.208G>A
  hgvsp: ENSP00000338407.7:p.Glu70Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.178G>A
  hgvsp: ENSP00000442096.2:p.Glu60Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.208G>A
  hgvsp: ENSP00000376828.2:p.Glu70Lys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.208G>A
  hgvsp: ENSP00000316631.6:p.Glu70Lys
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6344
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu70Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-56294084-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294084
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294084
    reference: chr 17
allele count: 1
allele frequency: 8.317806760713336e-6
allele num: 120224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-308A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.204A>T
  hgvsp: ENST00000393120.2:c.204A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.204A>T
  hgvsp: ENST00000393119.2:c.204A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.204A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1885A>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.204A>T
  hgvsp: ENST00000580127.1:c.204A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.204A>T
  hgvsp: ENST00000313863.6:c.204A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.94A>T
  hgvsp: ENSP00000462411.1:p.Arg32Ter
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.204A>T
  hgvsp: ENST00000337050.7:c.204A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.174A>T
  hgvsp: ENST00000537529.2:c.174A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg32Ter
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-56294088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294088
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294088
    reference: chr 17
allele count: 5
allele frequency: 4.161534107933548e-5
allele num: 120148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.170G>A
  hgvsp: ENSP00000442096.2:p.Arg57His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.200G>A
  hgvsp: ENSP00000338407.7:p.Arg67His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.200G>A
  hgvsp: ENSP00000462423.1:p.Arg67His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.200G>A
  hgvsp: ENSP00000376828.2:p.Arg67His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-312G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.200G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.200G>A
  hgvsp: ENSP00000316631.6:p.Arg67His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1889G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.200G>A
  hgvsp: ENSP00000376827.2:p.Arg67His
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.90G>A
  hgvsp: ENST00000578789.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg67His
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-56294089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294089
    reference: chr 17
allele count: 11
allele frequency: 9.155222638368706e-5
allele num: 120150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-313C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.199C>T
  hgvsp: ENSP00000316631.6:p.Arg67Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.199C>T
  hgvsp: ENSP00000376828.2:p.Arg67Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.199C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.89C>T
  hgvsp: ENSP00000462411.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.199C>T
  hgvsp: ENSP00000462423.1:p.Arg67Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.199C>T
  hgvsp: ENSP00000338407.7:p.Arg67Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.191-1890C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.169C>T
  hgvsp: ENSP00000442096.2:p.Arg57Cys
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.199C>T
  hgvsp: ENSP00000376827.2:p.Arg67Cys
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg67Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

17-56294097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294097
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294097
    reference: chr 17
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191G>A
  hgvsp: ENSP00000316631.6:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191G>A
  hgvsp: ENSP00000462423.1:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191G>A
  hgvsp: ENSP00000338407.7:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1884G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191G>A
  hgvsp: ENSP00000376828.2:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81G>A
  hgvsp: ENST00000578789.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191G>A
  hgvsp: ENSP00000376827.2:p.Ser64Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161G>A
  hgvsp: ENSP00000442096.2:p.Ser54Asn
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7603
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser64Asn
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-56294098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294098
    reference: chr 17
allele count: 2
allele frequency: 1.66688891852247e-5
allele num: 119984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-1G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-1G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-1G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-1G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-1G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-1G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-1G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-1G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1883G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-1G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
hgvs: c.191-1G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-56294103-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294103
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294103
    reference: chr 17
allele count: 9
allele frequency: 7.509136115607322e-5
allele num: 119854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-6T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-6T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1878T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-6T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-6T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-6T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-6T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-6T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-6T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-6T>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16544
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7569
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.191-6T>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-56294107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294107
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294107
    reference: chr 17
allele count: 1
allele frequency: 8.349475652928997e-6
allele num: 119768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1874G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-10G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-10G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-10G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-10G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-10G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-10G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-10G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-10G>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-10G>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-56294108-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294106
    reference: chr 17
allele count: 1
allele frequency: 8.351288603831571e-6
allele num: 119742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-13_161-12delGT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-13_191-12delGT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-13_191-12delGT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-13_191-12delGT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-13_191-12delGT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-13_81-12delGT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1871_190+1872delGT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-13_191-12delGT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-13_191-12delGT
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-13_-321-12delGT
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16490
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: AAC
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

17-56294109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294109
    reference: chr 17
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-12T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-12T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-12T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-12T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-12T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-12T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-12T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-12T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-12T>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1872T>C
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-56294116-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294116
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294116
    reference: chr 17
allele count: 2
allele frequency: 1.67319211591875e-5
allele num: 119532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-19C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-19C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-19C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-19C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-19C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-19C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1865C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-19C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-19C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-19C>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16033
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/17-56294117-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294117
    reference: chr 17
allele count: 1
allele frequency: 8.365820603342981e-6
allele num: 119534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-20T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-20T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-20T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-20T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-20T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-20T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1864T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-20T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-20T>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-20T>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-56294125-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294125
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294125
    reference: chr 17
allele count: 5
allele frequency: 4.190131402520783e-5
allele num: 119328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-28C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-28C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-28C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-28C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1856C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-28C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-28C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-28C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-28C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-28C>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14824
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-56294129-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294129
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294129
    reference: chr 17
allele count: 1
allele frequency: 8.388135820695209e-6
allele num: 119216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-32C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-32C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-32C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1852C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-32C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-32C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-32C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-32C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-32C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-32C>G
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-56294140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294140
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294140
    reference: chr 17
allele count: 1
allele frequency: 8.432840855427377e-6
allele num: 118584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-43C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-43C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-43C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-43C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-43C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-43C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1841C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-43C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-43C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-43C>T
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

17-56294141-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294141
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294141
    reference: chr 17
allele count: 4815
allele frequency: 4.067203892352136e-2
allele num: 118386
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1840G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-44G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-44G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-44G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-44G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-44G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-44G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-44G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-44G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-44G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 9.75e1
  variant carriers: 605
genotype depth: GenotypeDepth
  all individuals: 10264
  bin: 2.25e1
  variant carriers: 778
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 1.25e1
  variant carriers: 300
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.25e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.25e1
  variant carriers: 516
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 9.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.75e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 3.75e1
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 1.75e1
  variant carriers: 580
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 8.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 10860
  bin: 2.75e1
  variant carriers: 648
genotype quality: GenotypeQuality
num of homozygotes: 161
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

17-56294143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56294143
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56294143
    reference: chr 17
allele count: 20
allele frequency: 1.690445601460545e-4
allele num: 118312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.191-46G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-321-46G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+1838G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.161-46G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.191-46G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.191-46G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.191-46G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.81-46G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.191-46G>A
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.191-46G>A
  variant of: http://identifiers.org/hgnc/7121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11096
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

17-56295930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56295930
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56295930
    reference: chr 17
allele count: 22
allele frequency: 1.885046440689584e-4
allele num: 116708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.190+51C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167419
  ensembl protein: ENSP00000464636
  ensembl transcript: ENST00000582328
  gene symbol: LPO
  hgvsc: ENST00000582328.1:c.-537G>A
  variant of: http://identifiers.org/hgnc/6678
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.190+51C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.190+51C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.80+582C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.160+51C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.190+51C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.190+51C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.190+51C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+51C>T
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-322+51C>T
  variant of: http://identifiers.org/hgnc/7121
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13844
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13755
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

17-56295944-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56295944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56295944
    reference: chr 17
allele count: 1
allele frequency: 8.506439374606578e-6
allele num: 117558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.190+37A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+37A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167419
  ensembl protein: ENSP00000464636
  ensembl transcript: ENST00000582328
  gene symbol: LPO
  hgvsc: ENST00000582328.1:c.-523T>G
  variant of: http://identifiers.org/hgnc/6678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.190+37A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.190+37A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.190+37A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.80+568A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.190+37A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.160+37A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.190+37A>C
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-322+37A>C
  variant of: http://identifiers.org/hgnc/7121
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

17-56295947-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56295947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56295947
    reference: chr 17
allele count: 4
allele frequency: 3.39841294115648e-5
allele num: 117702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.80+565C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.190+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167419
  ensembl protein: ENSP00000464636
  ensembl transcript: ENST00000582328
  gene symbol: LPO
  hgvsc: ENST00000582328.1:c.-520G>C
  variant of: http://identifiers.org/hgnc/6678
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.190+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-322+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.160+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.190+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.190+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.190+34C>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.190+34C>G
  variant of: http://identifiers.org/hgnc/7121
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10761
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-56295951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56295951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 56295951
    reference: chr 17
allele count: 2
allele frequency: 1.689931388785615e-5
allele num: 118348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167419
  ensembl protein: ENSP00000464636
  ensembl transcript: ENST00000582328
  gene symbol: LPO
  hgvsc: ENST00000582328.1:c.-516T>C
  variant of: http://identifiers.org/hgnc/6678
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl transcript: ENST00000581180
  gene symbol: MKS1
  hgvsc: ENST00000581180.1:n.190+30A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462129
  ensembl transcript: ENST00000581761
  gene symbol: MKS1
  hgvsc: ENST00000581761.1:c.190+30A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000316631
  ensembl transcript: ENST00000313863
  gene symbol: MKS1
  hgvsc: ENST00000313863.6:c.190+30A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462411
  ensembl transcript: ENST00000578789
  gene symbol: MKS1
  hgvsc: ENST00000578789.1:c.80+561A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000442096
  ensembl transcript: ENST00000537529
  gene symbol: MKS1
  hgvsc: ENST00000537529.2:c.160+30A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000462423
  ensembl transcript: ENST00000580127
  gene symbol: MKS1
  hgvsc: ENST00000580127.1:c.190+30A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376828
  ensembl transcript: ENST00000393120
  gene symbol: MKS1
  hgvsc: ENST00000393120.2:c.190+30A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000338407
  ensembl transcript: ENST00000337050
  gene symbol: MKS1
  hgvsc: ENST00000337050.7:c.190+30A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000376827
  ensembl transcript: ENST00000393119
  gene symbol: MKS1
  hgvsc: ENST00000393119.2:c.190+30A>G
  variant of: http://identifiers.org/hgnc/7121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000011143
  ensembl protein: ENSP00000443012
  ensembl transcript: ENST00000546108
  gene symbol: MKS1
  hgvsc: ENST00000546108.1:c.-322+30A>G
  variant of: http://identifiers.org/hgnc/7121
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

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

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3426
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1929
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.316e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.046e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

DP
type: SiteQuality
SIO_000300: 2.974715e6

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

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 1

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

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

GenotypeQuality
all individuals: 3550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3413
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36116
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3431
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3689
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 3.060599877576005e-4
allele num: 9802
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048940570024275e-4
allele num: 66734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.449e2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.744e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.844e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.35e0

QD
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.79e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 2.16274e2

DP
type: SiteQuality
SIO_000300: 2.963615e6

GenotypeQuality
all individuals: 3413
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3550
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3689
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36115
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.121e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 8.3188e1

MQ
type: SiteQuality
SIO_000300: 5.906e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e0

VQSLOD
type: SiteQuality
SIO_000300: -4.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.372e0

DP
type: SiteQuality
SIO_000300: 2.962977e6

QD
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36115
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3431
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3689
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 3.060599877576005e-4
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198753296571566e-4
allele num: 66736
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.259e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.372e0

FS
type: SiteQuality
SIO_000300: 8.3188e1

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.121e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 2.962977e6

GenotypeQuality
all individuals: 36116
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3552
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3690
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3432
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6479
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.961376e6

MQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.051e0

FS
type: SiteQuality
SIO_000300: 3.326e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3552
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36116
bin: 9.75e1
variant carriers: 4

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

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

GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3690
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6483
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

FS
type: SiteQuality
SIO_000300: 2.552e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.404e1

DP
type: SiteQuality
SIO_000300: 2.961531e6

GenotypeQuality
all individuals: 3413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36113
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3690
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.961202e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.41e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

FS
type: SiteQuality
SIO_000300: 5.429e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.912e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

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

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

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

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

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36113
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3432
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

DP
type: SiteQuality
SIO_000300: 2.961139e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.274e0

QD
type: SiteQuality
SIO_000300: 1.137e1

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

FS
type: SiteQuality
SIO_000300: 3.623e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

GenotypeQuality
all individuals: 1930
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3407
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3426
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36114
bin: 9.75e1
variant carriers: 21

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

GenotypeQuality
all individuals: 1764
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3689
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3552
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 20
allele frequency: 2.320724065908563e-3
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

DP
type: SiteQuality
SIO_000300: 2.961709e6

FS
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36101
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6474
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3689
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.912044237083118e-4
allele num: 11574
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.482e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.132e0

FS
type: SiteQuality
SIO_000300: 1.162e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.960107e6

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

GenotypeQuality
all individuals: 3425
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36098
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1929
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3689
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.713e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.958748e6

QD
type: SiteQuality
SIO_000300: 1.544e1

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3550
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36098
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6455
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.058e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.811e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e0

DP
type: SiteQuality
SIO_000300: 2.958408e6

QD
type: SiteQuality
SIO_000300: 1.212e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

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

GenotypeQuality
all individuals: 6319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3685
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36093
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.275e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e0

FS
type: SiteQuality
SIO_000300: 1.738e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.784e1

DP
type: SiteQuality
SIO_000300: 2.95486e6

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.892e1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

BaseQRankSum
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SIO_000300: -4.003e0

MQRankSum
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SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 2.95422e6

InbreedingCoeff
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SIO_000300: 9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

QD
type: SiteQuality
SIO_000300: 3.052e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.016e0

FS
type: SiteQuality
SIO_000300: 2.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

DP
type: SiteQuality
SIO_000300: 2.953519e6

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.992e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.951981e6

FS
type: SiteQuality
SIO_000300: 3.427e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.6e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

DP
type: SiteQuality
SIO_000300: 2.947082e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.68e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.17e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

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

Other
type: Population
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allele num: 894
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
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South Asian
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Other
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European (Non-Finnish)
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allele num: 66440
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African
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East Asian
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.739130434782609e-4
allele num: 11500
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.405e1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

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

African
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allele frequency: 4.646840148698885e-3
allele num: 9684
num of homozygotes: 0

South Asian
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allele frequency: 1.214329083181542e-4
allele num: 16470
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.038050191305396e-5
allele num: 66386
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.089074460681977e-4
allele num: 11496
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6590
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MQRankSum
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ReadPosRankSum
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6590
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9684
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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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQ
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SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.015e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.292e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 2.93863e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: -1.694e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.632e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.773e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.050046758574919e-5
allele num: 66298
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.198e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

MQ
type: SiteQuality
SIO_000300: 5.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.925e0

BaseQRankSum
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SIO_000300: 4.75e0

DP
type: SiteQuality
SIO_000300: 2.927575e6

VQSLOD
type: SiteQuality
SIO_000300: 2.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 4.526525439072967e-5
allele num: 66276
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

African
type: Population
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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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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

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

European (Non-Finnish)
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allele num: 66224
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Other
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num of homozygotes: 0

South Asian
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African
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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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European (Finnish)
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num of homozygotes: 0

East Asian
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QD
type: SiteQuality
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Other
type: Population
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Latino
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allele num: 11336
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European (Non-Finnish)
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South Asian
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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: 16156
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.575068933127291e-5
allele num: 66006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

BaseQRankSum
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SIO_000300: -2.49e-1

FS
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 1.603e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

DP
type: SiteQuality
SIO_000300: 2.339793e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.040149781568546e-4
allele num: 9614
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66052
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
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FS
type: SiteQuality
SIO_000300: 1.211e0

DP
type: SiteQuality
SIO_000300: 2.347382e6

ClippingRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

GenotypeQuality
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variant carriers: 2

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027917398413371e-5
allele num: 66052
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 1.211e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.31e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
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SIO_000300: 2.48e0

DP
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MQRankSum
type: SiteQuality
SIO_000300: -5.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.757778168395148e-4
allele num: 11378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.627e0

DP
type: SiteQuality
SIO_000300: 2.369316e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: -1.825e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.217e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509889778046203e-5
allele num: 66230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.11e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.529e0

FS
type: SiteQuality
SIO_000300: 6.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.365e0

DP
type: SiteQuality
SIO_000300: 2.374251e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.159152500615915e-5
allele num: 16236
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.38169e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

FS
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.252e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

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

South Asian
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allele count: 2
allele frequency: 1.231678778174652e-4
allele num: 16238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.147037128104254e-5
allele num: 16268
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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QD
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InbreedingCoeff
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VQSLOD
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FS
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 890
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East Asian
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African
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allele frequency: 2.998965873836608e-3
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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African
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European (Finnish)
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South Asian
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Other
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DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
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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: 66610
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African
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Latino
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Other
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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MQRankSum
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MQ
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QD
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.127e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.026272577996716e-4
allele num: 9744
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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MQ
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FS
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QD
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

South Asian
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African
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European (Finnish)
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East Asian
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ClippingRankSum
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VQSLOD
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MQ
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DP
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BaseQRankSum
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QD
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MQRankSum
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FS
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InbreedingCoeff
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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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GenotypeQuality
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European (Non-Finnish)
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allele num: 66614
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Latino
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South Asian
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Other
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African
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European (Finnish)
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East Asian
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MQRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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MQRankSum
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DP
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QD
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MQ
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 867
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30901
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

FS
type: SiteQuality
SIO_000300: 1.956e0

MQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.893e0

DP
type: SiteQuality
SIO_000300: 2.403253e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30707
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13272
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1830
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variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

FS
type: SiteQuality
SIO_000300: 8.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.57e-2

QD
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 2.402299e6

GenotypeQuality
all individuals: 2350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13555
bin: 9.75e1
variant carriers: 396

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1093
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6288
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1808
bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.280298397945457e-4
allele num: 16354
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.667677380230443e-3
allele num: 6596
num of homozygotes: 1

Other
type: Population
allele count: 3
allele frequency: 3.370786516853933e-3
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 2.34456408475165e-3
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 336
allele frequency: 5.047621909082715e-3
allele num: 66566
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.437076575651817e-3
allele num: 9742
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.388e1

DP
type: SiteQuality
SIO_000300: 2.413826e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 13232
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6340
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2763
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variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.746e0

VQSLOD
type: SiteQuality
SIO_000300: -3.334e-1

QD
type: SiteQuality
SIO_000300: 1.577e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 2.399431e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

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

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

GenotypeQuality
all individuals: 1104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
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variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 489
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variant carriers: 0

GenotypeQuality
all individuals: 30581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13230
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2764
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 855
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

FS
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 2.398831e6

QD
type: SiteQuality
SIO_000300: 1.541e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 180
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 163
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GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 2366
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variant carriers: 0

GenotypeQuality
all individuals: 30483
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variant carriers: 0

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 855
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
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variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13228
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 2.39739e6

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 2733
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2358
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variant carriers: 0

GenotypeQuality
all individuals: 237
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 650
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GenotypeQuality
all individuals: 216
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GenotypeQuality
all individuals: 1103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13230
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30173
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.738828029907842e-4
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.51222813825467e-5
allele num: 66486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.395704e6

FS
type: SiteQuality
SIO_000300: 4.977e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 8.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1102
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variant carriers: 0

GenotypeQuality
all individuals: 13231
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 195
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variant carriers: 0

GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30278
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321262766945218e-4
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.124448799608035e-5
allele num: 16328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.052821561785585e-4
allele num: 66488
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

DP
type: SiteQuality
SIO_000300: 2.39613e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeDepth
all individuals: 494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1807
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
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: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.301e0

VQSLOD
type: SiteQuality
SIO_000300: -1.384e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.048e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.388152e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.082e1

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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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: 2

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

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

African
type: Population
allele count: 2
allele frequency: 2.055076037813399e-4
allele num: 9732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 1.623e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 2.388491e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.349e1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.357056694813028e-4
allele num: 66320
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

FS
type: SiteQuality
SIO_000300: 6.16e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
type: SiteQuality
SIO_000300: 1.323e1

DP
type: SiteQuality
SIO_000300: 2.380533e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

GenotypeQuality
all individuals: 1101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2291
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variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 2.375921e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.498e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.1e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1790
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.519295047098146e-4
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.822e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.278e0

DP
type: SiteQuality
SIO_000300: 2.372937e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

QD
type: SiteQuality
SIO_000300: 1.77e1

BaseQRankSum
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SIO_000300: -1.169e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

DP
type: SiteQuality
SIO_000300: 2.372927e6

QD
type: SiteQuality
SIO_000300: 1.574e1

ClippingRankSum
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SIO_000300: -1.187e0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.023980162690133e-5
allele num: 66138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -2.4e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 846
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13222
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.096e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 2.353286e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.596e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 9.25e1
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: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13223
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2658
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.573003756209864e-5
allele num: 66024
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

FS
type: SiteQuality
SIO_000300: 4.908e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 2.322567e6

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeQuality
all individuals: 5484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21289
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.176652254478072e-5
allele num: 16190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

DP
type: SiteQuality
SIO_000300: 2.304644e6

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.568e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

GenotypeQuality
all individuals: 126
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
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variant carriers: 0

GenotypeQuality
all individuals: 1987
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variant carriers: 0

GenotypeQuality
all individuals: 2519
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4097
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variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
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variant carriers: 0

GenotypeQuality
all individuals: 13210
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 830
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525041176111755e-5
allele num: 65572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

QD
type: SiteQuality
SIO_000300: 6.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.25898e6

FS
type: SiteQuality
SIO_000300: 6.107e0

MQRankSum
type: SiteQuality
SIO_000300: -1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 996
bin: 5.25e1
variant carriers: 15

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 4334
bin: 6.75e1
variant carriers: 15

GenotypeQuality
all individuals: 2202
bin: 7.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2564
bin: 4.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1774
bin: 7.25e1
variant carriers: 16

GenotypeQuality
all individuals: 3637
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2018
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1962
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1567
bin: 8.25e1
variant carriers: 22

GenotypeQuality
all individuals: 4044
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 16

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 2993
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 193
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13314
bin: 6.25e1
variant carriers: 23

GenotypeQuality
all individuals: 16342
bin: 9.75e1
variant carriers: 4504

GenotypeQuality
all individuals: 979
bin: 9.25e1
variant carriers: 22

GenotypeQuality
all individuals: 186
bin: 7.5e0
variant carriers: 3

Other
type: Population
allele count: 29
allele frequency: 3.325688073394496e-2
allele num: 872
num of homozygotes: 1

Latino
type: Population
allele count: 303
allele frequency: 2.684266477675408e-2
allele num: 11288
num of homozygotes: 2

South Asian
type: Population
allele count: 465
allele frequency: 2.885689462579124e-2
allele num: 16114
num of homozygotes: 10

European (Finnish)
type: Population
allele count: 206
allele frequency: 3.15273951637588e-2
allele num: 6534
num of homozygotes: 3

African
type: Population
allele count: 1526
allele frequency: 1.590577444235981e-1
allele num: 9594
num of homozygotes: 111

East Asian
type: Population
allele count: 55
allele frequency: 6.467544684854186e-3
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2231
allele frequency: 3.407147220525351e-2
allele num: 65480
num of homozygotes: 34

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

DP
type: SiteQuality
SIO_000300: 2.259772e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.61e-2

GenotypeQuality
all individuals: 2510
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4650
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13084
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1856
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4055
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variant carriers: 0

GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 3129
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variant carriers: 0

GenotypeQuality
all individuals: 4482
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variant carriers: 0

GenotypeQuality
all individuals: 1032
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variant carriers: 0

GenotypeQuality
all individuals: 3779
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variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2349
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.056795255853763e-4
allele num: 65428
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

FS
type: SiteQuality
SIO_000300: 7.166e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.230629e6

QD
type: SiteQuality
SIO_000300: 1.203e1

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
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variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5237
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.5e0
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GenotypeQuality
all individuals: 2178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9233
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 4268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 14752
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.306457633445315e-3
allele num: 16074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547316952404531e-5
allele num: 64628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11006
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.357e1

FS
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.796511e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.733e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 622
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9225
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1708
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.053740779768177e-4
allele num: 9490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65118
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

QD
type: SiteQuality
SIO_000300: 1.482e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.869876e6

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

GenotypeQuality
all individuals: 462
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9230
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4556
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.067766972420775e-5
allele num: 65194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.105263157894737e-4
allele num: 9500
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.891584e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.503e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1