17-78188541-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188541
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188541
    reference: chr 17
allele count: 1
allele frequency: 8.392077878482712e-6
allele num: 119160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.399G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.388G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.273G>C
  hgvsp: ENSP00000459280.1:p.Trp91Cys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+291G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+291G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.414G>C
  hgvsp: ENSP00000458200.1:p.Trp138Cys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-231G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.118G>C
  hgvsp: ENSP00000461128.1:p.Gly40Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.379G>C
  hgvsp: ENSP00000314606.6:p.Gly127Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-63G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-414G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.397G>C
  hgvsp: ENSP00000459765.1:p.Gly133Arg
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly127Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-78188542-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188542
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188542
    reference: chr 17
allele count: 1
allele frequency: 8.392641332080031e-6
allele num: 119152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.398G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-64G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.413G>T
  hgvsp: ENSP00000458200.1:p.Trp138Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.272G>T
  hgvsp: ENSP00000459280.1:p.Trp91Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-415G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.378G>T
  hgvsp: ENST00000326317.6:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+290G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.387G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.396G>T
  hgvsp: ENST00000570427.1:c.396G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.117G>T
  hgvsp: ENST00000576707.1:c.117G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-232G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+290G>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp91Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-78188544-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188544
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188544
    reference: chr 17
allele count: 1
allele frequency: 8.397010664203544e-6
allele num: 119090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.411G>C
  hgvsp: ENST00000570923.1:c.411G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.394G>C
  hgvsp: ENSP00000459765.1:p.Val132Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+288G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+288G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.270G>C
  hgvsp: ENST00000573150.1:c.270G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.376G>C
  hgvsp: ENSP00000314606.6:p.Val126Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-234G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.385G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.115G>C
  hgvsp: ENSP00000461128.1:p.Val39Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-66G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.396G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-417G>C
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val126Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-78188544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188544
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188544
    reference: chr 17
allele count: 2
allele frequency: 1.679402132840709e-5
allele num: 119090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-66G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.394G>A
  hgvsp: ENSP00000459765.1:p.Val132Met
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.396G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+288G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-234G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.376G>A
  hgvsp: ENSP00000314606.6:p.Val126Met
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+288G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.270G>A
  hgvsp: ENST00000573150.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.411G>A
  hgvsp: ENST00000570923.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.115G>A
  hgvsp: ENSP00000461128.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-417G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.385G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val126Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-78188545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188545
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188545
    reference: chr 17
allele count: 2
allele frequency: 1.679514956080684e-5
allele num: 119082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.384C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.395C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-418C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.375C>T
  hgvsp: ENST00000326317.6:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.410C>T
  hgvsp: ENSP00000458200.1:p.Thr137Met
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+287C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.269C>T
  hgvsp: ENSP00000459280.1:p.Thr90Met
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-235C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.114C>T
  hgvsp: ENST00000576707.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.393C>T
  hgvsp: ENST00000570427.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-67C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+287C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr90Met
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

17-78188554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188554
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188554
    reference: chr 17
allele count: 1
allele frequency: 8.419351036422112e-6
allele num: 118774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.386G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-76G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.366G>A
  hgvsp: ENST00000326317.6:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.384G>A
  hgvsp: ENST00000570427.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+278G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.105G>A
  hgvsp: ENST00000576707.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-427G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.375G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.401G>A
  hgvsp: ENSP00000458200.1:p.Gly134Glu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.260G>A
  hgvsp: ENSP00000459280.1:p.Gly87Glu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+278G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-244G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly87Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-78188556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188556
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188556
    reference: chr 17
allele count: 2
allele frequency: 1.684607739087953e-5
allele num: 118722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-78G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.103G>A
  hgvsp: ENSP00000461128.1:p.Gly35Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.399G>A
  hgvsp: ENST00000570923.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.373G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+276G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.384G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.258G>A
  hgvsp: ENST00000573150.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.364G>A
  hgvsp: ENSP00000314606.6:p.Gly122Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.382G>A
  hgvsp: ENSP00000459765.1:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-429G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+276G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-246G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly122Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

17-78188570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188570
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188570
    reference: chr 17
allele count: 1
allele frequency: 8.455658526686058e-6
allele num: 118264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-6G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.368G>A
  hgvsp: ENSP00000459765.1:p.Arg123His
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-6G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-443G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-6G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-6G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-6G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-6G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+262G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+262G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-6G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-92G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg123His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-78188571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188571
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188571
    reference: chr 17
allele count: 5
allele frequency: 4.231192350004231e-5
allele num: 118170
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-7C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-7C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.367C>T
  hgvsp: ENSP00000459765.1:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-7C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-93C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+261C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-7C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+261C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-7C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-444C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-7C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-7C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg123Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

17-78188576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188576
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188576
    reference: chr 17
allele count: 8
allele frequency: 6.779316305950545e-5
allele num: 118006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-12C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.362C>T
  hgvsp: ENSP00000459765.1:p.Ser121Phe
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-12C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-449C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+256C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-98C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-12C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+256C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-12C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-12C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-12C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-12C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser121Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-78188576-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188576
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188576
    reference: chr 17
allele count: 1
allele frequency: 8.474145382438182e-6
allele num: 118006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-12C>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.362C>A
  hgvsp: ENSP00000459765.1:p.Ser121Tyr
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+256C>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-449C>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-12C>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-12C>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-12C>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-98C>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+256C>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-12C>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-12C>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-12C>A
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser121Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

17-78188581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188581
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188581
    reference: chr 17
allele count: 1
allele frequency: 8.487811502682149e-6
allele num: 117816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.357C>T
  hgvsp: ENST00000570427.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+251C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-17C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+251C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-17C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-17C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-454C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-17C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-17C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-103C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-17C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-17C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.357C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-78188589-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188589
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188589
    reference: chr 17
allele count: 1
allele frequency: 8.504413790757403e-6
allele num: 117586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+243T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-7T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-462T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-25T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-25T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-111T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-25T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-25T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-25T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-25T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-25T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+243T>G
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12874
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.356-7T>G
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-78188591-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188591
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188591
    reference: chr 17
allele count: 2
allele frequency: 1.702533369654045e-5
allele num: 117472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-27T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-27T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+241T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-464T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-27T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-27T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-9T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-113T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+241T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-27T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-27T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-27T>G
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-78188592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188592
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188592
    reference: chr 17
allele count: 2
allele frequency: 1.702794285422378e-5
allele num: 117454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-10C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-28C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-28C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-465C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-28C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-28C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-114C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-28C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+240C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-28C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+240C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-28C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-78188605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188605
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188605
    reference: chr 17
allele count: 1
allele frequency: 8.551247627028784e-6
allele num: 116942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-41G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-41G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-41G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+227G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-23G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-41G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-41G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-41G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+227G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-127G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-478G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-41G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

17-78188610-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188610
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188610
    reference: chr 17
allele count: 1
allele frequency: 8.565163765931204e-6
allele num: 116752
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-46G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-46G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-46G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-46G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-483G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-46G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-132G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+222G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-28G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-46G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+222G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-46G>C
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-78188611-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188611
    reference: chr 17
allele count: 2
allele frequency: 1.715501269470939e-5
allele num: 116584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-47G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-47G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+221G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-47G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-133G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-29G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-47G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+221G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-484G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-47G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-47G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-47G>T
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-78188611-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188611
    reference: chr 17
allele count: 1
allele frequency: 8.577506347354697e-6
allele num: 116584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-29G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-47G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-47G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-47G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-47G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-47G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-484G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-47G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+221G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-47G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+221G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-133G>C
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-78188612-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188612
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188612
    reference: chr 17
allele count: 1
allele frequency: 8.579566903462713e-6
allele num: 116556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-48G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-48G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-48G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-134G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+220G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-30G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-485G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-48G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-48G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-48G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-48G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+220G>C
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

17-78188613-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188613
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188613
    reference: chr 17
allele count: 9
allele frequency: 7.720550389458875e-5
allele num: 116572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-31A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-486A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-49A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+219A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-49A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-49A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-49A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-49A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-49A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+219A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-49A>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-135A>C
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11970
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-78188614-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188614
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188614
    reference: chr 17
allele count: 1
allele frequency: 8.602150537634409e-6
allele num: 116250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-487A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-50A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-50A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-50A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-136A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-50A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-50A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+218A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+218A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-50A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-32A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-50A>G
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-78188616-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188616
    reference: chr 17
allele count: 2
allele frequency: 1.719956657092241e-5
allele num: 116282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+216G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-52G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-489G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-52G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+216G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-52G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-138G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-52G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-34G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-52G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-52G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-52G>C
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-78188618-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188618
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188618
    reference: chr 17
allele count: 2
allele frequency: 1.720785366441244e-5
allele num: 116226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-491C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.365-54C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.356-36C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.356-54C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+214C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.95-54C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.376-54C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-54C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.301-140C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.391-54C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+214C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-54C>G
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-78188783-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188783
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188783
    reference: chr 17
allele count: 1
allele frequency: 9.599139917063432e-6
allele num: 104176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+49A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+49A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+49A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.424A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+49A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-656A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-219A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+49A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+49A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+49A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+49A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+49A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-219A>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

17-78188788-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188788
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188788
    reference: chr 17
allele count: 1
allele frequency: 9.541984732824428e-6
allele num: 104800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+44A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-224A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-224A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+44A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-661A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+44A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+44A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.419A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+44A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+44A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+44A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+44A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+44A>G
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

17-78188792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188792
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188792
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 105086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+40A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+40A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-228A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+40A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.415A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+40A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-665A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+40A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+40A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+40A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-228A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+40A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+40A>G
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

17-78188804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188804
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188804
    reference: chr 17
allele count: 1
allele frequency: 9.288500835965075e-6
allele num: 107660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+28G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+28G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-677G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+28G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+28G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.403G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+28G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+28G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+28G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+28G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-240G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-240G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+28G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-78188805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188805
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188805
    reference: chr 17
allele count: 70
allele frequency: 6.466871142973283e-4
allele num: 108244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+27C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-678C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+27C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+27C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+27C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.402C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+27C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-241C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+27C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+27C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+27C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+27C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-241C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26899
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
num of homozygotes: 1
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-78188805-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188805
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188805
    reference: chr 17
allele count: 3
allele frequency: 2.771516204131407e-5
allele num: 108244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-241C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+27C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+27C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-241C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+27C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+27C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+27C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+27C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+27C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-678C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.402C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+27C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+27C>G
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26899
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-78188807-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188807
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188807
    reference: chr 17
allele count: 1
allele frequency: 9.158683347681937e-6
allele num: 109186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+25G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+25G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+25G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+25G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+25G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.400G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-680G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-243G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+25G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+25G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-243G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+25G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+25G>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

17-78188809-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188809
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188809
    reference: chr 17
allele count: 1
allele frequency: 9.098684330245847e-6
allele num: 109906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.398A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+23A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+23A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+23A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-682A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-245A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+23A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+23A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+23A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+23A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+23A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+23A>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-245A>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

17-78188815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188815
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188815
    reference: chr 17
allele count: 2
allele frequency: 1.789837303789085e-5
allele num: 111742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.392G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+17G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+17G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-251G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+17G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+17G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+17G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+17G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-688G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+17G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+17G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-251G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+17G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-78188816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188816
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188816
    reference: chr 17
allele count: 3
allele frequency: 2.670464660850988e-5
allele num: 112340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+16C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+16C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+16C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+16C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-689C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.391C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+16C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+16C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-252C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+16C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+16C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+16C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-252C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31458
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-78188820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188820
    reference: chr 17
allele count: 1
allele frequency: 8.781481611577505e-6
allele num: 113876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+12G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.387G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+12G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-693G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+12G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-256G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+12G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+12G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+12G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-256G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+12G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+12G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+12G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

17-78188821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188821
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188821
    reference: chr 17
allele count: 19
allele frequency: 1.662466750664987e-4
allele num: 114288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+11C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+11C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+11C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+11C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-694C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-257C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+11C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.386C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+11C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+11C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+11C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-257C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+11C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33024
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-78188821-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188821
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188821
    reference: chr 17
allele count: 1
allele frequency: 8.749825003499931e-6
allele num: 114288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+11C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+11C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-257C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-694C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.386C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+11C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-257C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+11C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+11C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+11C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+11C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+11C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+11C>G
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

17-78188823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188823
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188823
    reference: chr 17
allele count: 3
allele frequency: 2.609149417289963e-5
allele num: 114980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-696C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-259C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.384C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+9C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-259C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+9C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+9C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+9C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+9C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+9C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+9C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+9C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+9C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/17-78188826-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188826
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188826
    reference: chr 17
allele count: 1
allele frequency: 8.645881966419394e-6
allele num: 115662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.375+6G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-699G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.381G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.300+6G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.94+6G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.373+6G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.390+6G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.364+6G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-262G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.375+6G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.355+6G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.355+6G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-262G>T
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33697
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.355+6G>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-78188834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188834
    reference: chr 17
allele count: 1
allele frequency: 8.564283512041383e-6
allele num: 116764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.353C>T
  hgvsp: ENSP00000459765.1:p.Thr118Ile
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.373C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.371C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-270C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.373C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.92C>T
  hgvsp: ENSP00000461128.1:p.Thr31Ile
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.298C>T
  hgvsp: ENSP00000459708.1:p.Thr100Ile
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.353C>T
  hgvsp: ENSP00000314606.6:p.Thr118Ile
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.388C>T
  hgvsp: ENSP00000458200.1:p.Gln130Ter
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.362C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-270C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-707C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.373C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln130Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-78188836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188836
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188836
    reference: chr 17
allele count: 2
allele frequency: 1.709810894915022e-5
allele num: 116972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.371C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.371C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.351C>T
  hgvsp: ENST00000570427.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.351C>T
  hgvsp: ENST00000326317.6:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.369C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.296C>T
  hgvsp: ENST00000574505.1:c.296C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.371C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.360C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.386C>T
  hgvsp: ENSP00000458200.1:p.Ala129Val
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-272C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-272C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-709C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.90C>T
  hgvsp: ENST00000576707.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34328
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala129Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-78188837-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188837
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188837
    reference: chr 17
allele count: 4
allele frequency: 3.41646737273659e-5
allele num: 117080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-273G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.368G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.385G>A
  hgvsp: ENSP00000458200.1:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-710G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.370G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-273G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.359G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.370G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.89G>A
  hgvsp: ENSP00000461128.1:p.Arg30His
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.350G>A
  hgvsp: ENSP00000314606.6:p.Arg117His
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.350G>A
  hgvsp: ENSP00000459765.1:p.Arg117His
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.370G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.295G>A
  hgvsp: ENSP00000459708.1:p.Arg99His
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg117His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-78188838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188838
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188838
    reference: chr 17
allele count: 5
allele frequency: 4.268178170829563e-5
allele num: 117146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-274C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.349C>T
  hgvsp: ENSP00000459765.1:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.88C>T
  hgvsp: ENSP00000461128.1:p.Arg30Cys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-711C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.384C>T
  hgvsp: ENST00000570923.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.349C>T
  hgvsp: ENSP00000314606.6:p.Arg117Cys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.369C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.369C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.358C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.294C>T
  hgvsp: ENSP00000459708.1:p.Arg99Cys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.367C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.369C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-274C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg117Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-78188840-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188840
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188840
    reference: chr 17
allele count: 1
allele frequency: 8.516581784734879e-6
allele num: 117418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-713T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.86T>G
  hgvsp: ENSP00000461128.1:p.Val29Gly
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.367T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.356T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.292T>G
  hgvsp: ENSP00000459708.1:p.Val98Gly
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.347T>G
  hgvsp: ENSP00000459765.1:p.Val116Gly
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.367T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-276T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.347T>G
  hgvsp: ENSP00000314606.6:p.Val116Gly
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.382T>G
  hgvsp: ENSP00000458200.1:p.Cys128Gly
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.365T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.367T>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-276T>G
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val116Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/17-78188843-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188843
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188843
    reference: chr 17
allele count: 1
allele frequency: 8.502244592572439e-6
allele num: 117616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.364G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.362G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.364G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.344G>T
  hgvsp: ENSP00000314606.6:p.Gly115Val
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.83G>T
  hgvsp: ENSP00000461128.1:p.Gly28Val
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-279G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.353G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.379G>T
  hgvsp: ENSP00000458200.1:p.Val127Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.344G>T
  hgvsp: ENSP00000459765.1:p.Gly115Val
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-279G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.364G>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.289G>T
  hgvsp: ENSP00000459708.1:p.Gly97Val
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-716G>T
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly115Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

17-78188852-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188852
    reference: chr 17
allele count: 1
allele frequency: 8.469982382436644e-6
allele num: 118064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.280G>C
  hgvsp: ENSP00000459708.1:p.Ser94Thr
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.74G>C
  hgvsp: ENSP00000461128.1:p.Ser25Thr
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.355G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.355G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.370G>C
  hgvsp: ENSP00000458200.1:p.Ala124Pro
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.335G>C
  hgvsp: ENSP00000314606.6:p.Ser112Thr
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.335G>C
  hgvsp: ENSP00000459765.1:p.Ser112Thr
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.353G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-725G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.344G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.355G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-288G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-288G>C
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser112Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

17-78188857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188857
    reference: chr 17
allele count: 1
allele frequency: 8.46510682964819e-6
allele num: 118132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.339G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-293G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.275G>A
  hgvsp: ENST00000574505.1:c.275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.330G>A
  hgvsp: ENST00000570427.1:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-293G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.69G>A
  hgvsp: ENST00000576707.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.330G>A
  hgvsp: ENST00000326317.6:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.365G>A
  hgvsp: ENSP00000458200.1:p.Cys122Tyr
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.350G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.350G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-730G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.350G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.348G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys122Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-78188860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188860
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188860
    reference: chr 17
allele count: 1
allele frequency: 8.472135147499873e-6
allele num: 118034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.347G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.347G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-296G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.362G>A
  hgvsp: ENSP00000458200.1:p.Cys121Tyr
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.327G>A
  hgvsp: ENST00000326317.6:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.272G>A
  hgvsp: ENST00000574505.1:c.272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.336G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-296G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.66G>A
  hgvsp: ENST00000576707.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.327G>A
  hgvsp: ENST00000570427.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.345G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.347G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-733G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys121Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

17-78188863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188863
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188863
    reference: chr 17
allele count: 25
allele frequency: 2.1183568329718e-4
allele num: 118016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-299G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.344G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.63G>A
  hgvsp: ENST00000576707.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.344G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.324G>A
  hgvsp: ENST00000570427.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-736G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.269G>A
  hgvsp: ENST00000574505.1:c.269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.344G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.324G>A
  hgvsp: ENST00000326317.6:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.359G>A
  hgvsp: ENSP00000458200.1:p.Arg120His
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-299G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.333G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.342G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33190
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12395
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg120His
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-78188864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188864
    reference: chr 17
allele count: 1
allele frequency: 8.466826971924002e-6
allele num: 118108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-300C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.343C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.341C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.343C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.268C>T
  hgvsp: ENSP00000459708.1:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.358C>T
  hgvsp: ENSP00000458200.1:p.Arg120Cys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.332C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.323C>T
  hgvsp: ENSP00000459765.1:p.Pro108Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.323C>T
  hgvsp: ENSP00000314606.6:p.Pro108Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.62C>T
  hgvsp: ENSP00000461128.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-300C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.343C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-737C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro108Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

17-78188872-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188872
    reference: chr 17
allele count: 1
allele frequency: 8.449371366770313e-6
allele num: 118352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.315G>C
  hgvsp: ENST00000570427.1:c.315G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.260G>C
  hgvsp: ENST00000574505.1:c.260G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.324G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-308G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.335G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.333G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-745G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.315G>C
  hgvsp: ENST00000326317.6:c.315G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.350G>C
  hgvsp: ENSP00000458200.1:p.Gly117Ala
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.54G>C
  hgvsp: ENST00000576707.1:c.54G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.335G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-308G>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.335G>C
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly117Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-78188873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188873
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188873
    reference: chr 17
allele count: 4
allele frequency: 3.380205516495403e-5
allele num: 118336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.259G>A
  hgvsp: ENSP00000459708.1:p.Arg87Gln
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.349G>A
  hgvsp: ENSP00000458200.1:p.Gly117Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.334G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.314G>A
  hgvsp: ENSP00000459765.1:p.Arg105Gln
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.332G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.334G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-309G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.334G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.53G>A
  hgvsp: ENSP00000461128.1:p.Arg18Gln
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.323G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.314G>A
  hgvsp: ENSP00000314606.6:p.Arg105Gln
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-309G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-746G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12675
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg105Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

17-78188874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188874
    reference: chr 17
allele count: 3
allele frequency: 2.535754133279237e-5
allele num: 118308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.52C>T
  hgvsp: ENSP00000461128.1:p.Arg18Trp
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.348C>T
  hgvsp: ENST00000570923.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.333C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.313C>T
  hgvsp: ENSP00000314606.6:p.Arg105Trp
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-310C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.333C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-310C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-747C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.258C>T
  hgvsp: ENSP00000459708.1:p.Arg87Trp
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.313C>T
  hgvsp: ENSP00000459765.1:p.Arg105Trp
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.331C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.333C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.322C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg105Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-78188877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188877
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188877
    reference: chr 17
allele count: 3
allele frequency: 2.532372157412253e-5
allele num: 118466
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.310G>A
  hgvsp: ENSP00000314606.6:p.Val104Met
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-750G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.310G>A
  hgvsp: ENSP00000459765.1:p.Val104Met
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.255G>A
  hgvsp: ENSP00000459708.1:p.Val86Met
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-313G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.319G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.328G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.49G>A
  hgvsp: ENSP00000461128.1:p.Val17Met
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.345G>A
  hgvsp: ENST00000570923.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.330G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-313G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.330G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.330G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val104Met
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

17-78188878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188878
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188878
    reference: chr 17
allele count: 1
allele frequency: 8.440670526866655e-6
allele num: 118474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.309G>A
  hgvsp: ENST00000570427.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.329G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.254G>A
  hgvsp: ENST00000574505.1:c.254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.309G>A
  hgvsp: ENST00000326317.6:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.48G>A
  hgvsp: ENST00000576707.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.318G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.327G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.329G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.344G>A
  hgvsp: ENSP00000458200.1:p.Arg115Lys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-751G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.329G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-314G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-314G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg115Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-78188879-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188879
    reference: chr 17
allele count: 4
allele frequency: 3.377123366316571e-5
allele num: 118444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-315A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.343A>G
  hgvsp: ENSP00000458200.1:p.Arg115Gly
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.308A>G
  hgvsp: ENSP00000314606.6:p.Lys103Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.47A>G
  hgvsp: ENSP00000461128.1:p.Lys16Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.326A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.253A>G
  hgvsp: ENSP00000459708.1:p.Lys85Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.308A>G
  hgvsp: ENSP00000459765.1:p.Lys103Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.328A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-315A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.328A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.328A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.317A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-752A>G
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12824
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys103Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-78188883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188883
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188883
    reference: chr 17
allele count: 1
allele frequency: 8.437536914224e-6
allele num: 118518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-319G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.43G>A
  hgvsp: ENSP00000461128.1:p.Asp15Asn
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.322G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.324G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-756G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.304G>A
  hgvsp: ENSP00000314606.6:p.Asp102Asn
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.339G>A
  hgvsp: ENST00000570923.1:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-319G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.324G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.249G>A
  hgvsp: ENSP00000459708.1:p.Asp84Asn
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.304G>A
  hgvsp: ENSP00000459765.1:p.Asp102Asn
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.313G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.324G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp102Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-78188884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188884
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188884
    reference: chr 17
allele count: 25
allele frequency: 2.109704641350211e-4
allele num: 118500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-320C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.303C>T
  hgvsp: ENST00000326317.6:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.303C>T
  hgvsp: ENST00000570427.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.338C>T
  hgvsp: ENSP00000458200.1:p.Ser113Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-757C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.42C>T
  hgvsp: ENST00000576707.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.248C>T
  hgvsp: ENST00000574505.1:c.248C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.323C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.323C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.321C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.323C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.312C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-320C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33776
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ser113Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-78188890-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188890
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188890
    reference: chr 17
allele count: 1
allele frequency: 8.436397995511836e-6
allele num: 118534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.332C>G
  hgvsp: ENSP00000458200.1:p.Thr111Ser
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.36C>G
  hgvsp: ENSP00000461128.1:p.Asn12Lys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.242C>G
  hgvsp: ENSP00000459708.1:p.Asn81Lys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.317C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-326C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-763C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.297C>G
  hgvsp: ENSP00000314606.6:p.Asn99Lys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.317C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.297C>G
  hgvsp: ENSP00000459765.1:p.Asn99Lys
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.317C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-326C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.315C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.306C>G
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn99Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-78188895-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188895
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188895
    reference: chr 17
allele count: 1
allele frequency: 8.43397881384522e-6
allele num: 118568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-331T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-331T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.327T>C
  hgvsp: ENST00000570923.1:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.31T>C
  hgvsp: ENSP00000461128.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.312T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.310T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.237T>C
  hgvsp: ENSP00000459708.1:p.Phe80Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.292T>C
  hgvsp: ENSP00000314606.6:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.301T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.292T>C
  hgvsp: ENSP00000459765.1:p.Phe98Leu
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.312T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-768T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.312T>C
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe98Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-78188905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188905
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188905
    reference: chr 17
allele count: 1
allele frequency: 8.441810599537389e-6
allele num: 118458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.300C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.282C>T
  hgvsp: ENST00000326317.6:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-778C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.302C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.282C>T
  hgvsp: ENST00000570427.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.317C>T
  hgvsp: ENSP00000458200.1:p.Thr106Met
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.302C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.291C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.21C>T
  hgvsp: ENST00000576707.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.302C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.227C>T
  hgvsp: ENST00000574505.1:c.227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-341C>T
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-341C>T
  variant of: http://identifiers.org/hgnc/10818
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr106Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

17-78188911-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188911
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188911
    reference: chr 17
allele count: 9
allele frequency: 7.605205340544194e-5
allele num: 118340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-784C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-347C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.221C>G
  hgvsp: ENSP00000459708.1:p.His74Gln
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.276C>G
  hgvsp: ENSP00000314606.6:p.His92Gln
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.296C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.294C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.311C>G
  hgvsp: ENSP00000458200.1:p.Thr104Ser
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.296C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.276C>G
  hgvsp: ENSP00000459765.1:p.His92Gln
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.15C>G
  hgvsp: ENSP00000461128.1:p.His5Gln
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-347C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.296C>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.285C>G
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.His92Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-78188919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188919
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188919
    reference: chr 17
allele count: 1
allele frequency: 8.464390309965973e-6
allele num: 118142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.268G>A
  hgvsp: ENSP00000314606.6:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.7G>A
  hgvsp: ENSP00000461128.1:p.Gly3Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.303G>A
  hgvsp: ENST00000570923.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.288G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.268G>A
  hgvsp: ENSP00000459765.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-355G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.288G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-355G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.277G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.288G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.213G>A
  hgvsp: ENSP00000459708.1:p.Gly72Arg
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-792G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.286G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly90Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-78188931-TCTGATG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188931
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188925
    reference: chr 17
allele count: 1
allele frequency: 8.505715841045183e-6
allele num: 117568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.270_275delCATCAG
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.270_275delCATCAG
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.195_200delCATCAG
  hgvsp: ENSP00000459708.1:p.His66_Gln67del
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.285_290delCATCAG
  hgvsp: ENSP00000458200.1:p.Ser95_Ile96del
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-373_250-368delCATCAG
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.268_273delCATCAG
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.250_255delCATCAG
  hgvsp: ENSP00000459765.1:p.His84_Gln85del
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.270_275delCATCAG
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.250_255delCATCAG
  hgvsp: ENSP00000314606.6:p.His84_Gln85del
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-810_250-805delCATCAG
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-373_-254-368delCATCAG
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.259_264delCATCAG
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.-12_-7delCATCAG
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12885
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His84_Gln85del
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TCTGATG
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

17-78188939-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188939
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188939
    reference: chr 17
allele count: 3
allele frequency: 2.567262271513658e-5
allele num: 116856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-375A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-375A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.195-2A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.259-2A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.270-2A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.250-2A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-812A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.285-2A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.270-2A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.268-2A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.270-2A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.250-2A>G
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.-12-2A>G
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.250-2A>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

17-78188947-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188947
    reference: chr 17
allele count: 1
allele frequency: 8.683872312341519e-6
allele num: 115156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461128
  ensembl transcript: ENST00000576707
  gene symbol: SGSH
  hgvsc: ENST00000576707.1:c.-12-10T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.268-10T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575188
  gene symbol: SGSH
  hgvsc: ENST00000575188.1:n.270-10T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000458200
  ensembl transcript: ENST00000570923
  gene symbol: SGSH
  hgvsc: ENST00000570923.1:c.285-10T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459765
  ensembl transcript: ENST00000570427
  gene symbol: SGSH
  hgvsc: ENST00000570427.1:c.250-10T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000314606
  ensembl transcript: ENST00000326317
  gene symbol: SGSH
  hgvsc: ENST00000326317.6:c.250-10T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000461160
  ensembl transcript: ENST00000576941
  gene symbol: SGSH
  hgvsc: ENST00000576941.1:c.250-820T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-383T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459708
  ensembl transcript: ENST00000574505
  gene symbol: SGSH
  hgvsc: ENST00000574505.1:c.195-10T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000575282
  gene symbol: SGSH
  hgvsc: ENST00000575282.1:n.259-10T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000459280
  ensembl transcript: ENST00000573150
  gene symbol: SGSH
  hgvsc: ENST00000573150.1:c.250-383T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571675
  gene symbol: SGSH
  hgvsc: ENST00000571675.1:n.270-10T>C
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000571051
  gene symbol: SGSH
  hgvsc: ENST00000571051.1:n.270-10T>C
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

17-78188951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 78188951
    reference: chr 17
allele count: 3
allele frequency: 2.640984559043612e-5
allele num: 113594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl protein: ENSP00000437778
  ensembl transcript: ENST00000534910
  gene symbol: SGSH
  hgvsc: ENST00000534910.1:c.-254-387G>A
  variant of: http://identifiers.org/hgnc/10818
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181523
  ensembl transcript: ENST00000572208
  gene symbol: SGSH
  hgvsc: ENST00000572208.1:n.268-14G>A
  variant of: http://identifiers.org/hgnc/10818
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37930
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1378
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45134
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6240
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 574
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538603563405853e-5
allele num: 64994
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 2.387e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.473071e6

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6239
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45167
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 977
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64988
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 9.32e0

MQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

DP
type: SiteQuality
SIO_000300: 1.473075e6

FS
type: SiteQuality
SIO_000300: 1.6092e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.397e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
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: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64952
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 3.006e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.175e1

DP
type: SiteQuality
SIO_000300: 1.471929e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1377
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173158141717503e-4
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64952
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.471929e6

FS
type: SiteQuality
SIO_000300: 3.006e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

GenotypeDepth
all individuals: 1377
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1286
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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.539835545563734e-5
allele num: 64942
num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.067961165048543e-5
allele num: 16480
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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SIO_000300: -4.18e-1

VQSLOD
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.544306143249838e-5
allele num: 64754
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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FS
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SIO_000300: 5.138e0

QD
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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SIO_000300: 1.466951e6

ReadPosRankSum
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SIO_000300: 6.2e-2

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

Other
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num of homozygotes: 0

South Asian
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allele num: 16464
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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African
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

African
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European (Non-Finnish)
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allele count: 1
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allele num: 64452
num of homozygotes: 0

Other
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South Asian
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MQ
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SIO_000300: 6.0e1

FS
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: -3.39e-1

BaseQRankSum
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SIO_000300: 1.16e0

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

African
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allele frequency: 2.004811547714515e-4
allele num: 9976
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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South Asian
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allele num: 16452
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 64394
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MQRankSum
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DP
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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East Asian
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allele num: 8434
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European (Finnish)
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European (Non-Finnish)
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allele num: 64292
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African
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Other
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FS
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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Other
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East Asian
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FS
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 1954
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558797855094152e-5
allele num: 64152
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
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
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.450692e6

VQSLOD
type: SiteQuality
SIO_000300: -3.764e-1

MQRankSum
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SIO_000300: 6.6e-2

FS
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ClippingRankSum
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SIO_000300: -7.28e-1

QD
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SIO_000300: 1.031e1

ReadPosRankSum
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SIO_000300: 1.72e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.004e0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562207086171343e-5
allele num: 64012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

VQSLOD
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SIO_000300: -1.897e0

QD
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SIO_000300: 6.03e0

MQ
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SIO_000300: 5.896e1

ReadPosRankSum
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SIO_000300: -9.1e-2

BaseQRankSum
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SIO_000300: -1.177e0

ClippingRankSum
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SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 1.443666e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1628
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.126954346466542e-5
allele num: 63960
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.728e0

ReadPosRankSum
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SIO_000300: 1.36e0

BaseQRankSum
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SIO_000300: -3.07e0

QD
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SIO_000300: 1.368e1

VQSLOD
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SIO_000300: 8.48e-1

ClippingRankSum
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SIO_000300: -1.176e0

DP
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SIO_000300: 1.4402e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 56
bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 168
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21713729308666e-4
allele num: 16432
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63934
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.158e1

MQRankSum
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SIO_000300: 1.6e0

ClippingRankSum
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SIO_000300: -7.05e-1

BaseQRankSum
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SIO_000300: -4.111e0

FS
type: SiteQuality
SIO_000300: 2.055e0

DP
type: SiteQuality
SIO_000300: 1.440281e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 724
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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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 868
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
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: 1.57217872527749e-5
allele num: 63606
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.41862e6

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

VQSLOD
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SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeDepth
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63500
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
num of homozygotes: 0

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 559
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.577934168586487e-5
allele num: 63374
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Other
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East Asian
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allele count: 1
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allele num: 8372
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FS
type: SiteQuality
SIO_000300: 8.73e-1

MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 6.9e-3

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 395
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

African
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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Latino
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16402
num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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ClippingRankSum
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DP
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.1020258725897e-5
allele num: 16388
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.728608470181504e-5
allele num: 57850
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Other
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African
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Latino
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South Asian
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Latino
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African
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Other
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.683955274147919e-5
allele num: 59384
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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East Asian
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Latino
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ClippingRankSum
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QD
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FS
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VQSLOD
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 7724
num of homozygotes: 0

South Asian
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allele count: 17
allele frequency: 1.102321359097393e-3
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African
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allele frequency: 1.118318049653321e-4
allele num: 8942
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 10438
num of homozygotes: 0

European (Non-Finnish)
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allele count: 51
allele frequency: 8.542713567839196e-4
allele num: 59700
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.025125628140704e-5
allele num: 59700
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Latino
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num of homozygotes: 0

European (Finnish)
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East Asian
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African
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South Asian
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QD
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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European (Finnish)
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QD
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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Latino
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East Asian
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QD
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InbreedingCoeff
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FS
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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South Asian
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Other
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African
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East Asian
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
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DP
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FS
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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South Asian
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European (Finnish)
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Latino
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Other
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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European (Non-Finnish)
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Latino
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South Asian
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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ClippingRankSum
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QD
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Latino
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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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
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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African
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Latino
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VQSLOD
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FS
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ClippingRankSum
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MQ
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SIO_000300: 5.811e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.65e-1

MQRankSum
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SIO_000300: 1.66e0

DP
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SIO_000300: 1.797927e6

BaseQRankSum
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SIO_000300: 5.79e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.559916388481577e-5
allele num: 64106
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.957e1

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.115070712105165e-5
allele num: 64204
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.112549800796813e-5
allele num: 64256
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.367424242424242e-4
allele num: 8448
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 2.2e-2

MQ
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SIO_000300: 5.968e1

ClippingRankSum
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SIO_000300: 2.8e-2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11352
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 64288
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East Asian
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African
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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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African
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6188
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.773469029654326e-5
allele num: 11398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64784
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.833774e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.04e-1

FS
type: SiteQuality
SIO_000300: 4.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
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SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.431e1

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6189
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543066999969139e-5
allele num: 64806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

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

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

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

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

MQRankSum
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SIO_000300: 1.69e-1

MQ
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SIO_000300: 5.956e1

VQSLOD
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SIO_000300: -2.068e0

FS
type: SiteQuality
SIO_000300: 1.4498e1

InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
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SIO_000300: -2.44e-1

QD
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SIO_000300: 1.127e1

DP
type: SiteQuality
SIO_000300: 1.832836e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.35e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6182
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544735541275334e-5
allele num: 64736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

VQSLOD
type: SiteQuality
SIO_000300: -3.513e0

QD
type: SiteQuality
SIO_000300: 7.5e0

FS
type: SiteQuality
SIO_000300: 1.412e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.885e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.25e0

DP
type: SiteQuality
SIO_000300: 1.843109e6

GenotypeDepth
all individuals: 368
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeQuality
all individuals: 449
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6206
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 788
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 22
allele frequency: 2.199560087982404e-3
allele num: 10002
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545547278291243e-5
allele num: 64702
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

DP
type: SiteQuality
SIO_000300: 1.847489e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

GenotypeDepth
all individuals: 361
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 6183
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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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GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 509
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54435384235236e-5
allele num: 64752
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -9.824000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 3.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.49e-1

DP
type: SiteQuality
SIO_000300: 1.84441e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

MQ
type: SiteQuality
SIO_000300: 5.882e1

GenotypeDepth
all individuals: 410
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64886
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

DP
type: SiteQuality
SIO_000300: 1.835429e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
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SIO_000300: 2.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

QD
type: SiteQuality
SIO_000300: 1.017e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6225
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.990445859872612e-4
allele num: 10048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541307028360049e-5
allele num: 64880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
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FS
type: SiteQuality
SIO_000300: 4.959e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

DP
type: SiteQuality
SIO_000300: 1.835887e6

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

GenotypeDepth
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 896
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variant carriers: 0

GenotypeDepth
all individuals: 356
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.082614056720099e-5
allele num: 64880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.742e1

InbreedingCoeff
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ReadPosRankSum
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QD
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FS
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VQSLOD
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BaseQRankSum
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SIO_000300: 1.8e-2

MQRankSum
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SIO_000300: -2.34e-1

ClippingRankSum
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SIO_000300: 4.15e-1

DP
type: SiteQuality
SIO_000300: 1.837017e6

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64962
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.822157434402332e-4
allele num: 16464
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
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SIO_000300: 1.06e0

InbreedingCoeff
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SIO_000300: 1.0e-4

QD
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: 5.7e-2

FS
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SIO_000300: 1.095e0

MQRankSum
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SIO_000300: 7.02e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.839232e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53955106690889e-5
allele num: 64954
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 4.0e-4

MQRankSum
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SIO_000300: 1.92e0

FS
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SIO_000300: 5.667e0

VQSLOD
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DP
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SIO_000300: 1.83975e6

ReadPosRankSum
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SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

BaseQRankSum
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SIO_000300: -1.796e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.95e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.158204267635558e-5
allele num: 64954
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.204e0

QD
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DP
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

BaseQRankSum
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SIO_000300: 2.38e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64972
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: -3.0e-4

DP
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SIO_000300: 1.842242e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64970
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: 25
allele frequency: 2.48558361503281e-3
allele num: 10058
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
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Other
type: Population
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South Asian
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.538508877196221e-5
allele num: 64998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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African
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FS
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VQSLOD
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ClippingRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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African
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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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MQRankSum
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MQ
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QD
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.232058153144828e-4
allele num: 64932
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European (Finnish)
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Latino
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East Asian
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South Asian
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African
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Other
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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FS
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11046
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582428711586543e-5
allele num: 63194
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 2.171e0

DP
type: SiteQuality
SIO_000300: 1.669535e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2