11-121174054-T-TCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174054
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174056
    reference: chr 11
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: TCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.59-16_59-15dupCA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.-10-16_-10-15dupCA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.-10-16_-10-15dupCA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.-10-16_-10-15dupCA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.47-16_47-15dupCA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.137-16_137-15dupCA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.-10-16_-10-15dupCA
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

11-121174075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174075
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174075
    reference: chr 11
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.47G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.-10G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.137G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.59G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.-10G>A
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 0
hgvs: c.-10G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/11-121174078-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174078
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174078
    reference: chr 11
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.-7C>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.-7C>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.-7C>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.140C>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.50C>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.-7C>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.62C>A
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-121174078-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174078
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174078
    reference: chr 11
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.-7C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.-7C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.62C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.50C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.140C>G
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

11-121174078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174078
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174078
    reference: chr 11
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.62C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.50C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.140C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.-7C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.-7C>T
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

11-121174082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174082
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174082
    reference: chr 11
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.-3G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.54G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.144G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.66G>A
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

11-121174089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174089
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174089
    reference: chr 11
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.151A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.5A>G
  hgvsp: ENSP00000376539.2:p.Asp2Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.5A>G
  hgvsp: ENSP00000264027.4:p.Asp2Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.73A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.5A>G
  hgvsp: ENSP00000436290.1:p.Asp2Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.5A>G
  hgvsp: ENSP00000432550.1:p.Asp2Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.61A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp2Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

11-121174097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174097
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174097
    reference: chr 11
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.69C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.13C>T
  hgvsp: ENSP00000436290.1:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.13C>T
  hgvsp: ENSP00000376539.2:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.13C>T
  hgvsp: ENSP00000264027.4:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.13C>T
  hgvsp: ENSP00000432550.1:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.159C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.81C>T
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu5Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

11-121174100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174100
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174100
    reference: chr 11
allele count: 78
allele frequency: 6.4342632768548e-4
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.16C>T
  hgvsp: ENSP00000436290.1:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.16C>T
  hgvsp: ENSP00000376539.2:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.84C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.16C>T
  hgvsp: ENSP00000264027.4:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.72C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.16C>T
  hgvsp: ENSP00000432550.1:p.Arg6Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.162C>T
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 32361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg6Cys
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

11-121174101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174101
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174101
    reference: chr 11
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.85G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.17G>A
  hgvsp: ENSP00000264027.4:p.Arg6His
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.73G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.17G>A
  hgvsp: ENSP00000432550.1:p.Arg6His
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.17G>A
  hgvsp: ENSP00000376539.2:p.Arg6His
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.163G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.17G>A
  hgvsp: ENSP00000436290.1:p.Arg6His
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg6His
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

11-121174106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174106
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174106
    reference: chr 11
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.90G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.168G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.22G>A
  hgvsp: ENSP00000432550.1:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.78G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.22G>A
  hgvsp: ENSP00000264027.4:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.22G>A
  hgvsp: ENSP00000376539.2:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.22G>A
  hgvsp: ENSP00000436290.1:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala8Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

11-121174107-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174107
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174107
    reference: chr 11
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.23C>G
  hgvsp: ENSP00000264027.4:p.Ala8Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.23C>G
  hgvsp: ENSP00000376539.2:p.Ala8Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.23C>G
  hgvsp: ENSP00000432550.1:p.Ala8Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.23C>G
  hgvsp: ENSP00000436290.1:p.Ala8Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.79C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.91C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.169C>G
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala8Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

11-121174132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174132
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174132
    reference: chr 11
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.48C>T
  hgvsp: ENST00000392789.2:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.194C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.48C>T
  hgvsp: ENST00000534230.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.104C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.48C>T
  hgvsp: ENST00000264027.4:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.48C>T
  hgvsp: ENST00000527762.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.116C>T
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr16Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

11-121174134-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174134
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174134
    reference: chr 11
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.118T>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.50T>A
  hgvsp: ENSP00000376539.2:p.Val17Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.50T>A
  hgvsp: ENSP00000264027.4:p.Val17Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.196T>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.50T>A
  hgvsp: ENSP00000432550.1:p.Val17Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.50T>A
  hgvsp: ENSP00000436290.1:p.Val17Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.106T>A
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val17Glu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-121174140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174140
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174140
    reference: chr 11
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.124C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.202C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.56C>T
  hgvsp: ENSP00000432550.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.56C>T
  hgvsp: ENSP00000264027.4:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.112C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.56C>T
  hgvsp: ENSP00000376539.2:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.56C>T
  hgvsp: ENSP00000436290.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro19Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

11-121174143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174143
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174143
    reference: chr 11
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.205C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.59C>T
  hgvsp: ENSP00000264027.4:p.Ala20Val
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.127C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.115C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.59C>T
  hgvsp: ENSP00000432550.1:p.Ala20Val
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.59C>T
  hgvsp: ENSP00000376539.2:p.Ala20Val
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.59C>T
  hgvsp: ENSP00000436290.1:p.Ala20Val
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala20Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

11-121174147-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174147
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174147
    reference: chr 11
allele count: 11
allele frequency: 9.06409136604097e-5
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.209A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.63A>G
  hgvsp: ENST00000527762.1:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.131A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.119A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.63A>G
  hgvsp: ENST00000264027.4:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.63A>G
  hgvsp: ENST00000392789.2:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.63A>G
  hgvsp: ENST00000534230.1:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr21Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-121174148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174148
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174148
    reference: chr 11
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.132T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.64T>C
  hgvsp: ENSP00000264027.4:p.Trp22Arg
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.120T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.64T>C
  hgvsp: ENSP00000436290.1:p.Trp22Arg
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.210T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.64T>C
  hgvsp: ENSP00000432550.1:p.Trp22Arg
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.64T>C
  hgvsp: ENSP00000376539.2:p.Trp22Arg
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47895
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp22Arg
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

11-121174154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174154
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174154
    reference: chr 11
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.216G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.138G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.70G>A
  hgvsp: ENSP00000264027.4:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.70G>A
  hgvsp: ENSP00000436290.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.70G>A
  hgvsp: ENSP00000432550.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.70G>A
  hgvsp: ENSP00000376539.2:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.126G>A
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu24Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

11-121174155-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174155
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174155
    reference: chr 11
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.71A>G
  hgvsp: ENSP00000436290.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.71A>G
  hgvsp: ENSP00000376539.2:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.139A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.217A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.127A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.71A>G
  hgvsp: ENSP00000264027.4:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.71A>G
  hgvsp: ENSP00000432550.1:p.Glu24Gly
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu24Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

11-121174157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174157
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174157
    reference: chr 11
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.129G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.73G>A
  hgvsp: ENSP00000376539.2:p.Asp25Asn
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.73G>A
  hgvsp: ENSP00000264027.4:p.Asp25Asn
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.73G>A
  hgvsp: ENSP00000432550.1:p.Asp25Asn
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.73G>A
  hgvsp: ENSP00000436290.1:p.Asp25Asn
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.219G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.141G>A
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp25Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

11-121174158-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174158
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174158
    reference: chr 11
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.220A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.130A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.142A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.74A>G
  hgvsp: ENSP00000432550.1:p.Asp25Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.74A>G
  hgvsp: ENSP00000436290.1:p.Asp25Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.74A>G
  hgvsp: ENSP00000264027.4:p.Asp25Gly
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.74A>G
  hgvsp: ENSP00000376539.2:p.Asp25Gly
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp25Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-121174169-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174169
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174169
    reference: chr 11
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.141C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.85C>T
  hgvsp: ENSP00000436290.1:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.231C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.85C>T
  hgvsp: ENSP00000376539.2:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.85C>T
  hgvsp: ENSP00000432550.1:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.85C>T
  hgvsp: ENSP00000264027.4:p.Arg29Ter
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.153C>T
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg29Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-121174170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174170
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174170
    reference: chr 11
allele count: 6
allele frequency: 4.944620253164557e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.86G>A
  hgvsp: ENSP00000264027.4:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.142G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.232G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.86G>A
  hgvsp: ENSP00000436290.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.86G>A
  hgvsp: ENSP00000376539.2:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.154G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.86G>A
  hgvsp: ENSP00000432550.1:p.Arg29Gln
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8274
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg29Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

11-121174174-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174174
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174174
    reference: chr 11
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.90A>G
  hgvsp: ENST00000534230.1:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.90A>G
  hgvsp: ENST00000264027.4:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.146A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.158A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.236A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.90A>G
  hgvsp: ENST00000392789.2:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.90A>G
  hgvsp: ENST00000527762.1:c.90A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln30Gln
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

11-121174178-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174178
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174178
    reference: chr 11
allele count: 4
allele frequency: 3.296359171295305e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.94A>G
  hgvsp: ENSP00000432550.1:p.Ile32Val
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.240A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.162A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.94A>G
  hgvsp: ENSP00000436290.1:p.Ile32Val
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.94A>G
  hgvsp: ENSP00000264027.4:p.Ile32Val
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.94A>G
  hgvsp: ENSP00000376539.2:p.Ile32Val
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.150A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ile32Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

11-121174209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174209
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174209
    reference: chr 11
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.271C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.193C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.125C>T
  hgvsp: ENSP00000432550.1:p.Ala42Val
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.125C>T
  hgvsp: ENSP00000264027.4:p.Ala42Val
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.125C>T
  hgvsp: ENSP00000376539.2:p.Ala42Val
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.181C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.125C>T
  hgvsp: ENSP00000436290.1:p.Ala42Val
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala42Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

11-121174210-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174210
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174210
    reference: chr 11
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.194T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.182T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.126T>C
  hgvsp: ENST00000534230.1:c.126T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.126T>C
  hgvsp: ENST00000264027.4:c.126T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.126T>C
  hgvsp: ENST00000392789.2:c.126T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.272T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.126T>C
  hgvsp: ENST00000527762.1:c.126T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala42Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/11-121174212-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174212
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174212
    reference: chr 11
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.128A>C
  hgvsp: ENSP00000376539.2:p.Tyr43Ser
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.196A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.184A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.274A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.128A>C
  hgvsp: ENSP00000436290.1:p.Tyr43Ser
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.128A>C
  hgvsp: ENSP00000264027.4:p.Tyr43Ser
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.128A>C
  hgvsp: ENSP00000432550.1:p.Tyr43Ser
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr43Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

11-121174212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174212
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174212
    reference: chr 11
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.184A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.128A>G
  hgvsp: ENSP00000432550.1:p.Tyr43Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.128A>G
  hgvsp: ENSP00000376539.2:p.Tyr43Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.128A>G
  hgvsp: ENSP00000264027.4:p.Tyr43Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.196A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.128A>G
  hgvsp: ENSP00000436290.1:p.Tyr43Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.274A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8278
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr43Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/11-121174217-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174217
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174217
    reference: chr 11
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.189C>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.279C>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.133C>A
  hgvsp: ENSP00000376539.2:p.Leu45Ile
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.133C>A
  hgvsp: ENSP00000264027.4:p.Leu45Ile
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.133C>A
  hgvsp: ENSP00000436290.1:p.Leu45Ile
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.133C>A
  hgvsp: ENSP00000432550.1:p.Leu45Ile
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.201C>A
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8275
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu45Ile
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/11-121174221-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174221
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174221
    reference: chr 11
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.137A>C
  hgvsp: ENSP00000436290.1:p.Tyr46Ser
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.137A>C
  hgvsp: ENSP00000376539.2:p.Tyr46Ser
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.193A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.137A>C
  hgvsp: ENSP00000264027.4:p.Tyr46Ser
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.137A>C
  hgvsp: ENSP00000432550.1:p.Tyr46Ser
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.283A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.205A>C
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr46Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

11-121174226-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174226
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174226
    reference: chr 11
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.210T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.142T>C
  hgvsp: ENSP00000264027.4:p.Phe48Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.142T>C
  hgvsp: ENSP00000376539.2:p.Phe48Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.142T>C
  hgvsp: ENSP00000432550.1:p.Phe48Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.142T>C
  hgvsp: ENSP00000436290.1:p.Phe48Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.288T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.198T>C
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe48Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS

11-121174246-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174246
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174246
    reference: chr 11
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.162T>C
  hgvsp: ENST00000264027.4:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.308T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.162T>C
  hgvsp: ENST00000392789.2:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.218T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.162T>C
  hgvsp: ENST00000527762.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.230T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.162T>C
  hgvsp: ENST00000534230.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr54Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

11-121174248-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174248
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174248
    reference: chr 11
allele count: 9
allele frequency: 7.424517406368586e-5
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.164A>G
  hgvsp: ENSP00000376539.2:p.Tyr55Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.164A>G
  hgvsp: ENSP00000432550.1:p.Tyr55Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.164A>G
  hgvsp: ENSP00000436290.1:p.Tyr55Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.232A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.310A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.164A>G
  hgvsp: ENSP00000264027.4:p.Tyr55Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.220A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr55Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

11-121174253-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174253
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174253
    reference: chr 11
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.169G>C
  hgvsp: ENSP00000436290.1:p.Val57Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.169G>C
  hgvsp: ENSP00000432550.1:p.Val57Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.169G>C
  hgvsp: ENSP00000376539.2:p.Val57Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.225G>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.237G>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.169G>C
  hgvsp: ENSP00000264027.4:p.Val57Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.315G>C
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47758
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val57Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-121174258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174258
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174258
    reference: chr 11
allele count: 10
allele frequency: 8.256820133430213e-5
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.242C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.174C>T
  hgvsp: ENST00000392789.2:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.320C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.174C>T
  hgvsp: ENST00000264027.4:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.174C>T
  hgvsp: ENST00000534230.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.174C>T
  hgvsp: ENST00000527762.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.230C>T
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe58Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

11-121174259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174259
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174259
    reference: chr 11
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.175G>A
  hgvsp: ENSP00000436290.1:p.Asp59Asn
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.175G>A
  hgvsp: ENSP00000432550.1:p.Asp59Asn
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.175G>A
  hgvsp: ENSP00000376539.2:p.Asp59Asn
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.321G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.231G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.175G>A
  hgvsp: ENSP00000264027.4:p.Asp59Asn
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.243G>A
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp59Asn
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-121174267-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174267
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174267
    reference: chr 11
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.183A>C
  hgvsp: ENST00000392789.2:c.183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.251A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.183A>C
  hgvsp: ENST00000264027.4:c.183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.183A>C
  hgvsp: ENST00000527762.1:c.183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.183A>C
  hgvsp: ENST00000534230.1:c.183A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.329A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.239A>C
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala61Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

11-121174273-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174273
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174273
    reference: chr 11
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.189G>T
  hgvsp: ENSP00000264027.4:p.Met63Ile
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.189G>T
  hgvsp: ENSP00000376539.2:p.Met63Ile
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.257G>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.335G>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.189G>T
  hgvsp: ENSP00000436290.1:p.Met63Ile
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.189G>T
  hgvsp: ENSP00000432550.1:p.Met63Ile
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.245G>T
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met63Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

11-121174274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174274
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174274
    reference: chr 11
allele count: 4
allele frequency: 3.315430011272462e-5
allele num: 120648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.190A>G
  hgvsp: ENSP00000376539.2:p.Lys64Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.258A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.190A>G
  hgvsp: ENSP00000264027.4:p.Lys64Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.336A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.190A>G
  hgvsp: ENSP00000432550.1:p.Lys64Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.246A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.190A>G
  hgvsp: ENSP00000436290.1:p.Lys64Glu
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys64Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

11-121174282-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174282
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174282
    reference: chr 11
allele count: 24
allele frequency: 2.000566827267726e-4
allele num: 119966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.198A>G
  hgvsp: ENST00000534230.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.198A>G
  hgvsp: ENST00000527762.1:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.198A>G
  hgvsp: ENST00000264027.4:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.198A>G
  hgvsp: ENST00000392789.2:c.198A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.344A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.266A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.254A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13692
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31918
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro66Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

11-121174312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174312
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174312
    reference: chr 11
allele count: 1
allele frequency: 9.499924000607994e-6
allele num: 105264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+18C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.284C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+18C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+18C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+18C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+18C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+18C>T
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9499
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

11-121174313-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174313
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174313
    reference: chr 11
allele count: 63
allele frequency: 6.038994651176166e-4
allele num: 104322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+19T>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+19T>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.285T>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+19T>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+19T>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+19T>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+19T>A
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21145
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 9.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

11-121174323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174323
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174323
    reference: chr 11
allele count: 5
allele frequency: 5.43608254147731e-5
allele num: 91978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.295C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+29C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+29C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+29C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+29C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+29C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+29C>T
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17364
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13846
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 20574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

11-121174324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174324
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174324
    reference: chr 11
allele count: 8
allele frequency: 8.844274437835806e-5
allele num: 90454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+30G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+30G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.296G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+30G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+30G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+30G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+30G>A
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17887
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19532
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/11-121174336-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174336
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174336
    reference: chr 11
allele count: 6
allele frequency: 8.147081986801727e-5
allele num: 73646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+42A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+42A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+42A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+42A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+42A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.308A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+42A>C
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19524
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

11-121174338-TAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174338
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174335
    reference: chr 11
allele count: 1
allele frequency: 1.432541615333925e-5
allele num: 69806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+47_210+49delCAA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+47_356+49delCAA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.313_315delCAA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+47_210+49delCAA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+47_210+49delCAA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+47_210+49delCAA
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+47_278+49delCAA
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8549
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: TAAC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

11-121174341-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174341
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174341
    reference: chr 11
allele count: 1
allele frequency: 1.561231499406732e-5
allele num: 64052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+47C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+47C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+47C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+47C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+47C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+47C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.313C>T
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

11-121174344-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174344
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174344
    reference: chr 11
allele count: 1
allele frequency: 1.747885059078515e-5
allele num: 57212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+50T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.316T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+50T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+50T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+50T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+50T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+50T>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

11-121174345-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174345
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174345
    reference: chr 11
allele count: 1
allele frequency: 1.745505323791237e-5
allele num: 57290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+51A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+51A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+51A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.317A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+51A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+51A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+51A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16935
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7380
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

11-121174348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174348
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174348
    reference: chr 11
allele count: 1
allele frequency: 1.910803684029503e-5
allele num: 52334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+54A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+54A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+54A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.320A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+54A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+54A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+54A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15906
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum

11-121174350-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174350
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174350
    reference: chr 11
allele count: 1
allele frequency: 2.01963081148766e-5
allele num: 49514
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+56A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+56A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.322A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+56A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+56A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+56A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+56A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17523
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27935
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

11-121174352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174352
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174352
    reference: chr 11
allele count: 1
allele frequency: 2.343457067866517e-5
allele num: 42672
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+58A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+58A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+58A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+58A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.324A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+58A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+58A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

11-121174358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174358
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174358
    reference: chr 11
allele count: 2
allele frequency: 5.416237881167741e-5
allele num: 36926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.330G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+64G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+64G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+64G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+64G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+64G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+64G>A
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11807
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

11-121174363-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174363
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174363
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 34126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+69T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+69T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.335T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+69T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+69T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+69T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+69T>C
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23787
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16199
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

11-121174369-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174369
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174369
    reference: chr 11
allele count: 1
allele frequency: 3.632137149498765e-5
allele num: 27532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+75A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.341A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+75A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+75A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+75A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+75A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+75A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

11-121174380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174380
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174380
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 22674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+86T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.352T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+86T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+86T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+86T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+86T>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+86T>C
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-121174383-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174383
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174383
    reference: chr 11
allele count: 2
allele frequency: 9.530162965786715e-5
allele num: 20986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+89A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+89A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+89A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.355A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+89A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+89A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+89A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13729
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28174
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26591
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

11-121174391-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174391
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174391
    reference: chr 11
allele count: 49
allele frequency: 2.904220009483167e-3
allele num: 16872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+97A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+97A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.363A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+97A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+97A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+97A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+97A>T
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14699
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27402
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22107
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 8.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

11-121174398-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121174398
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121174398
    reference: chr 11
allele count: 1
allele frequency: 6.246096189881324e-5
allele num: 16010
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.210+104A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.210+104A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.210+104A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.370A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.210+104A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.356+104A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.278+104A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27419
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20392
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

11-121175001-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175001
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175001
    reference: chr 11
allele count: 1
allele frequency: 8.744163271016596e-6
allele num: 114362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.211-48A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.973A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.211-69A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.357-69A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.279-69A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.211-69A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.211-69A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9511
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

11-121175003-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175003
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175003
    reference: chr 11
allele count: 1
allele frequency: 8.745233847553084e-6
allele num: 114348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.975C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.357-67C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.211-67C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.211-46C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.279-67C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.211-67C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.211-67C>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9711
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

11-121175019-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175019
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175019
    reference: chr 11
allele count: 1
allele frequency: 8.649920420732129e-6
allele num: 115608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.357-51T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.279-51T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.211-51T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.991T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.211-30T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.211-51T>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.211-51T>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

11-121175021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175021
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175021
    reference: chr 11
allele count: 1
allele frequency: 8.6333419666753e-6
allele num: 115830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.211-28G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.357-49G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.211-49G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.993G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.211-49G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.211-49G>A
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.279-49G>A
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/11-121175040-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175040
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175040
    reference: chr 11
allele count: 3
allele frequency: 2.51779239962401e-5
allele num: 119152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.1012A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.211-30A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.211-30A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.279-30A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.211-30A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.357-30A>C
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.211-9A>C
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

11-121175050-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175050
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175050
    reference: chr 11
allele count: 1
allele frequency: 8.314072398942449e-6
allele num: 120278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.212A>G
  hgvsp: ENSP00000436290.1:p.Tyr71Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.1022A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.357-20A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.211-20A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.211-20A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.211-20A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.279-20A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10007
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr71Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-121175056-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175056
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175056
    reference: chr 11
allele count: 39
allele frequency: 3.232169199913809e-4
allele num: 120662
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.211-14A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.357-14A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.1028A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.218A>G
  hgvsp: ENSP00000436290.1:p.Lys73Arg
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.211-14A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.279-14A>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.211-14A>G
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31305
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys73Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP

11-121175062-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175062
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175062
    reference: chr 11
allele count: 871
allele frequency: 7.204539438856538e-3
allele num: 120896
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.211-8A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.224A>T
  hgvsp: ENSP00000436290.1:p.His75Leu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.357-8A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.279-8A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.1034A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.211-8A>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.211-8A>T
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 3.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 5.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 30932
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 4.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 10751
  bin: 9.75e1
  variant carriers: 862
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His75Leu
num of homozygotes: 9
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

11-121175067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175067
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175067
    reference: chr 11
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.357-3C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.211-3C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.229C>T
  hgvsp: ENSP00000436290.1:p.Gln77Ter
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.211-3C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.211-3C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.1039C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.279-3C>T
  variant of: http://identifiers.org/hgnc/10547
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln77Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-121175073-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175073
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175073
    reference: chr 11
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.360C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.235C>G
  hgvsp: ENSP00000436290.1:p.Gln79Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.214C>G
  hgvsp: ENSP00000264027.4:p.Gln72Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.214C>G
  hgvsp: ENSP00000376539.2:p.Gln72Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.214C>G
  hgvsp: ENSP00000432550.1:p.Gln72Glu
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.1045C>G
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.282C>G
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln72Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

11-121175079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121175079
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 121175079
    reference: chr 11
allele count: 5
allele frequency: 4.126978886376017e-5
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000376539
  ensembl transcript: ENST00000392789
  gene symbol: SC5D
  hgvsc: ENST00000392789.2:c.220C>T
  hgvsp: ENSP00000376539.2:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000524683
  gene symbol: SC5D
  hgvsc: ENST00000524683.1:n.1051C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000531140
  gene symbol: SC5D
  hgvsc: ENST00000531140.1:n.288C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000109929
  ensembl transcript: ENST00000534455
  gene symbol: SC5D
  hgvsc: ENST00000534455.1:n.366C>T
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000436290
  ensembl transcript: ENST00000527762
  gene symbol: SC5D
  hgvsc: ENST00000527762.1:c.241C>T
  hgvsp: ENSP00000436290.1:p.Arg81Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000264027
  ensembl transcript: ENST00000264027
  gene symbol: SC5D
  hgvsc: ENST00000264027.4:c.220C>T
  hgvsp: ENSP00000264027.4:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/10547
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109929
  ensembl protein: ENSP00000432550
  ensembl transcript: ENST00000534230
  gene symbol: SC5D
  hgvsc: ENST00000534230.1:c.220C>T
  hgvsp: ENSP00000432550.1:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/10547
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg74Cys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47171
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1398
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 3.677e0

QD
type: SiteQuality
SIO_000300: 1.679e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQ
type: SiteQuality
SIO_000300: 6.035e1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.70942e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8229
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1094
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.713301e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -1.618e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.402e0

FS
type: SiteQuality
SIO_000300: 1.426e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.141e0

QD
type: SiteQuality
SIO_000300: 1.617e1

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

GenotypeQuality
all individuals: 2
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: 4.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.502268425322237e-5
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num of homozygotes: 0

MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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bin: 7.25e1
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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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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 8.0e-4

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

African
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.50195253829979e-5
allele num: 66580
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VQSLOD
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66628
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South Asian
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allele num: 16490
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Other
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
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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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variant carriers: 0

South Asian
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allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66646
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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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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InbreedingCoeff
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Finnish)
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allele frequency: 2.571860816944024e-3
allele num: 6610
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Other
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European (Non-Finnish)
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allele num: 66648
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South Asian
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MQRankSum
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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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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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South Asian
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European (Non-Finnish)
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Latino
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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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ClippingRankSum
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DP
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QD
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Latino
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East Asian
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Other
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MQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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East Asian
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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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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.237e1

MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.58e0

ReadPosRankSum
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SIO_000300: -2.115e0

MQRankSum
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SIO_000300: -3.4e-2

FS
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SIO_000300: 5.731e0

ClippingRankSum
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SIO_000300: 2.08e0

DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.0e-4

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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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

DP
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FS
type: SiteQuality
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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SIO_000300: 2.05e0

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

African
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allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

FS
type: SiteQuality
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MQRankSum
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MQ
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SIO_000300: 5.952e1

DP
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.17e-1

VQSLOD
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SIO_000300: -2.143e-1

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
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SIO_000300: 2.6e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.267e0

QD
type: SiteQuality
SIO_000300: 1.455e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
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
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.99e1

DP
type: SiteQuality
SIO_000300: 1.716591e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.965999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

FS
type: SiteQuality
SIO_000300: 5.03e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 11
allele frequency: 1.271088513981974e-3
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10400
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

South Asian
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European (Finnish)
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allele num: 6610
num of homozygotes: 0

FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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allele num: 10400
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East Asian
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European (Finnish)
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South Asian
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Latino
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Other
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VQSLOD
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DP
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QD
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 8.652015919709292e-5
allele num: 11558
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European (Finnish)
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European (Non-Finnish)
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allele count: 1
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allele num: 66716
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African
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South Asian
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Other
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VQSLOD
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BaseQRankSum
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DP
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FS
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10400
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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FS
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VQSLOD
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MQ
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DP
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

East Asian
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allele frequency: 2.311604253351826e-4
allele num: 8652
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VQSLOD
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MQRankSum
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MQ
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QD
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BaseQRankSum
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DP
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ClippingRankSum
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FS
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SIO_000300: 5.143e0

ReadPosRankSum
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InbreedingCoeff
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 7.495128166691651e-5
allele num: 66710
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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SIO_000300: 2.3e-2

ClippingRankSum
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FS
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SIO_000300: 1.753e0

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
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DP
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SIO_000300: 1.716415e6

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

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11556
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 1.716055e6

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.201e1

ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.996282304970918e-5
allele num: 66708
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East Asian
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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FS
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SIO_000300: 1.752e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.716183e6

QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66682
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East Asian
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Other
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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FS
type: SiteQuality
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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South Asian
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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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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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allele num: 11536
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.715371e6

MQ
type: SiteQuality
SIO_000300: 5.907e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 3.239e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.442e0

QD
type: SiteQuality
SIO_000300: 1.236e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.578e0

VQSLOD
type: SiteQuality
SIO_000300: -3.586e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999130252226854e-5
allele num: 66686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.172e1

FS
type: SiteQuality
SIO_000300: 3.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.715215e6

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1025
bin: 9.75e1
variant carriers: 2

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.58e0

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

DP
type: SiteQuality
SIO_000300: 1.715149e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeQuality
all individuals: 8257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 8.47e-1

DP
type: SiteQuality
SIO_000300: 1.713858e6

MQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.341e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 1026
bin: 9.75e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.350256548744261e-4
allele num: 66654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.412e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

DP
type: SiteQuality
SIO_000300: 1.714207e6

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 197
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1384
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GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.937e-1

DP
type: SiteQuality
SIO_000300: 1.713016e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.586e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.412e0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

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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bin: 9.75e1
variant carriers: 10

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504098729844158e-5
allele num: 66606
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: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.244996967859309e-4
allele num: 16490
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.437e0

DP
type: SiteQuality
SIO_000300: 1.712619e6

QD
type: SiteQuality
SIO_000300: 1.337e1

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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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 1.711691e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.837e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

FS
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

Other
type: Population
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allele num: 902
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.705462e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

QD
type: SiteQuality
SIO_000300: 7.83e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 2.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.034820916689297e-5
allele num: 66282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 8.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.372e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

QD
type: SiteQuality
SIO_000300: 1.283e1

DP
type: SiteQuality
SIO_000300: 1.702967e6

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 24

GenotypeQuality
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GenotypeQuality
all individuals: 46663
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.493741645400413e-4
allele num: 65832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 7.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.311e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.689343e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 958
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.77563123690472e-5
allele num: 56318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.067e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 3.912e0

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.382258e6

GenotypeQuality
all individuals: 98
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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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.049758555532228e-4
allele num: 9526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 61
allele frequency: 1.093229147998136e-3
allele num: 55798
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.592827004219409e-5
allele num: 15168
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.333e1

VQSLOD
type: SiteQuality
SIO_000300: 5.65e0

DP
type: SiteQuality
SIO_000300: 1.361061e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
all individuals: 935
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
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variant carriers: 0

GenotypeQuality
all individuals: 1799
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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
all individuals: 393
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GenotypeQuality
all individuals: 481
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.050440844781628e-5
allele num: 48770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5372
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.994011976047904e-4
allele num: 6680
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.369668246445498e-4
allele num: 8440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14080
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

FS
type: SiteQuality
SIO_000300: 7.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 1.113477e6

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 242
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GenotypeQuality
all individuals: 316
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GenotypeQuality
all individuals: 1451
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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: 933
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variant carriers: 6

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.205109664979513e-4
allele num: 8298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.155482109498491e-4
allele num: 13918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.341675008341675e-5
allele num: 47952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.279e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.502e0

DP
type: SiteQuality
SIO_000300: 1.088265e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 11686
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.618122977346278e-3
allele num: 618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12140
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 7.204610951008645e-4
allele num: 6940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

FS
type: SiteQuality
SIO_000300: 6.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.69282e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.69e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

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
all individuals: 925
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.775310834813499e-5
allele num: 36032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4164
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

DP
type: SiteQuality
SIO_000300: 8.34493e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

FS
type: SiteQuality
SIO_000300: 1.983e0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-1

MQ
type: SiteQuality
SIO_000300: 5.643e1

GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 1551
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GenotypeQuality
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GenotypeQuality
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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: 180
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GenotypeQuality
all individuals: 941
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.043584124665206e-5
allele num: 32856
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 558
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South Asian
type: Population
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

DP
type: SiteQuality
SIO_000300: 7.82955e5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1600
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29260
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 512
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3366
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 7.2172e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.275e0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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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
all individuals: 923
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variant carriers: 1

GenotypeQuality
all individuals: 30593
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4660
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.286e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

DP
type: SiteQuality
SIO_000300: 7.2071e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.158e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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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
all individuals: 1608
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.766194636938837e-5
allele num: 26552
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.89e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -1.412e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.493e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.193e1

DP
type: SiteQuality
SIO_000300: 6.76015e5

MQRankSum
type: SiteQuality
SIO_000300: -1.493e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.546099290780142e-4
allele num: 2820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25084
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.034e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.739e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

DP
type: SiteQuality
SIO_000300: 6.49791e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.413999999999999e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.636068613815485e-5
allele num: 21570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2418
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.04e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.69e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.196e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 5.91558e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.434e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 1318
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
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variant carriers: 0

GenotypeQuality
all individuals: 100
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 130
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GenotypeQuality
all individuals: 206
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.071926251473899e-4
allele num: 18658
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.259e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

DP
type: SiteQuality
SIO_000300: 5.40245e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -2.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.26e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.69e0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 131
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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: 83
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1328
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.1376e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.953337271116361e-4
allele num: 3386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.073e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

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

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.26e-2

DP
type: SiteQuality
SIO_000300: 4.49606e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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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
all individuals: 154
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

QD
type: SiteQuality
SIO_000300: 1.418e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

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

DP
type: SiteQuality
SIO_000300: 3.97807e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 922
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4718
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.390983000739098e-4
allele num: 2706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.516e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
all individuals: 963
bin: 9.75e1
variant carriers: 45

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 113
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 335
bin: 4.75e1
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GenotypeQuality
all individuals: 167
bin: 7.75e1
variant carriers: 3

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

Latino
type: Population
allele count: 2
allele frequency: 3.367003367003367e-3
allele num: 594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 4.817387407573382e-3
allele num: 8926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.08695652173913e-2
allele num: 184
num of homozygotes: 0

African
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allele count: 2
allele frequency: 8.635578583765112e-4
allele num: 2316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3522
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.68e-2

DP
type: SiteQuality
SIO_000300: 3.56145e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.480286738351254e-4
allele num: 2232
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3208
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.02e-2

DP
type: SiteQuality
SIO_000300: 3.55829e5

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9877
bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605755026013232e-5
allele num: 62276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.465e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.534307e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2815
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.1441111923921e-5
allele num: 10936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.49e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.276e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.376e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.540962e6

GenotypeQuality
all individuals: 852
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1112
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variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63010
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.200480192076831e-4
allele num: 8330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

DP
type: SiteQuality
SIO_000300: 1.639973e6

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
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variant carriers: 0

GenotypeQuality
all individuals: 1968
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1110
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variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58378207158695e-5
allele num: 63140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 1.65488e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

GenotypeQuality
all individuals: 2685
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1646
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.589682393978337e-5
allele num: 65364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.495e0

QD
type: SiteQuality
SIO_000300: 1.314e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 1.742319e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-5
allele num: 66120
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.76009e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

FS
type: SiteQuality
SIO_000300: 2.497e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

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
all individuals: 382
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GenotypeQuality
all individuals: 1688
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 36
allele frequency: 3.487696182910289e-3
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.616431187859759e-4
allele num: 11466
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2733
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 626
allele frequency: 9.41891607234209e-3
allele num: 66462
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 96
allele frequency: 1.458523245214221e-2
allele num: 6582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 82
allele frequency: 4.979958702781489e-3
allele num: 16466
num of homozygotes: 3

Latino
type: Population
allele count: 37
allele frequency: 3.219631047685346e-3
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 1.835039598222909e-3
allele num: 10354
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.108647450110865e-2
allele num: 902
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.803016e6

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

FS
type: SiteQuality
SIO_000300: 6.18e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30554
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 2815
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GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3760
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10424
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2770
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.703e0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.055e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.791416e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.326e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

GenotypeQuality
all individuals: 1720
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2783
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1311
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.793171e6

FS
type: SiteQuality
SIO_000300: 8.84e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: -1.348e0

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.404e0