17-80013950-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013950
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013950
    reference: chr 17
allele count: 1
allele frequency: 8.54481756814492e-6
allele num: 117030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*825A>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1028A>G
  hgvsp: ENSP00000347251.2:p.Gln343Arg
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.860A>G
  hgvsp: ENSP00000313569.4:p.Gln287Arg
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.245A>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1028A>G
  hgvsp: ENSP00000376167.2:p.Gln343Arg
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2917A>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.908A>G
  hgvsp: ENSP00000462265.1:p.Gln303Arg
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.920A>G
  hgvsp: ENSP00000302873.6:p.Gln307Arg
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6232
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln343Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-80013951-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013951
    reference: chr 17
allele count: 1
allele frequency: 8.545839885143913e-6
allele num: 117016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.861G>A
  hgvsp: ENST00000320548.4:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2918G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.246G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1029G>A
  hgvsp: ENST00000355130.2:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1029G>A
  hgvsp: ENST00000392358.2:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*826G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.921G>A
  hgvsp: ENST00000306823.6:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.909G>A
  hgvsp: ENST00000578552.1:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln343Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-80013956-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013956
    reference: chr 17
allele count: 2
allele frequency: 1.710220276371597e-5
allele num: 116944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2923A>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1034A>T
  hgvsp: ENSP00000347251.2:p.Asn345Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.866A>T
  hgvsp: ENSP00000313569.4:p.Asn289Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.251A>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.914A>T
  hgvsp: ENSP00000462265.1:p.Asn305Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1034A>T
  hgvsp: ENSP00000376167.2:p.Asn345Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*831A>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.926A>T
  hgvsp: ENSP00000302873.6:p.Asn309Ile
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16172
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn345Ile
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: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

17-80013963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013963
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013963
    reference: chr 17
allele count: 1
allele frequency: 8.576476440419219e-6
allele num: 116598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2930C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.873C>T
  hgvsp: ENST00000320548.4:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1041C>T
  hgvsp: ENST00000355130.2:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1041C>T
  hgvsp: ENST00000392358.2:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.933C>T
  hgvsp: ENST00000306823.6:c.933C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.258C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.921C>T
  hgvsp: ENST00000578552.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*838C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile347Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

17-80013965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013965
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013965
    reference: chr 17
allele count: 1
allele frequency: 8.578978072132047e-6
allele num: 116564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.875C>T
  hgvsp: ENSP00000313569.4:p.Ser292Phe
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1043C>T
  hgvsp: ENSP00000347251.2:p.Ser348Phe
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2932C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.260C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1043C>T
  hgvsp: ENSP00000376167.2:p.Ser348Phe
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*840C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.935C>T
  hgvsp: ENSP00000302873.6:p.Ser312Phe
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.923C>T
  hgvsp: ENSP00000462265.1:p.Ser308Phe
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser348Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-80013966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013966
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013966
    reference: chr 17
allele count: 3
allele frequency: 2.575505228275613e-5
allele num: 116482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*841C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.261C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.936C>T
  hgvsp: ENST00000306823.6:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.924C>T
  hgvsp: ENST00000578552.1:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.876C>T
  hgvsp: ENST00000320548.4:c.876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2933C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1044C>T
  hgvsp: ENST00000392358.2:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1044C>T
  hgvsp: ENST00000355130.2:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser348Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

17-80013968-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013968
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013968
    reference: chr 17
allele count: 1
allele frequency: 8.596826051821667e-6
allele num: 116322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2935G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.878G>T
  hgvsp: ENSP00000313569.4:p.Ser293Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.263G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1046G>T
  hgvsp: ENSP00000376167.2:p.Ser349Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.938G>T
  hgvsp: ENSP00000302873.6:p.Ser313Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1046G>T
  hgvsp: ENSP00000347251.2:p.Ser349Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.926G>T
  hgvsp: ENSP00000462265.1:p.Ser309Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*843G>T
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34269
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser349Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-80013975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013975
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013975
    reference: chr 17
allele count: 1
allele frequency: 8.626043751293907e-6
allele num: 115928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+4G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+4G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+4G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+4G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+4G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2942G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+4G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+4G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1049+4G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

17-80013980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013980
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013980
    reference: chr 17
allele count: 1
allele frequency: 8.650219715580775e-6
allele num: 115604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2947C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+9C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24472
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-80013982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013982
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013982
    reference: chr 17
allele count: 4
allele frequency: 3.468428628409899e-5
allele num: 115326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2949C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+11C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+11C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+11C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+11C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+11C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+11C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+11C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24175
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29115
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-80013983-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013983
    reference: chr 17
allele count: 2
allele frequency: 1.734274466277033e-5
allele num: 115322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+12G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+12G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+12G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+12G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+12G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+12G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2950G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+12G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24030
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14427
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-80013984-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013984
    reference: chr 17
allele count: 1
allele frequency: 8.6629589202488e-6
allele num: 115434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+13G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+13G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+13G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+13G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+13G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+13G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2951G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+13G>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-80013992-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013992
    reference: chr 17
allele count: 1
allele frequency: 8.697467297522961e-6
allele num: 114976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2959G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+21G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+21G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+21G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+21G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+21G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+21G>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+21G>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-80013997-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80013997
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80013997
    reference: chr 17
allele count: 1
allele frequency: 8.715052638917939e-6
allele num: 114744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+26G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+26G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+26G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2964G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+26G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+26G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+26G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+26G>C
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12978
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-80014001-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014001
    reference: chr 17
allele count: 1
allele frequency: 8.727678961057096e-6
allele num: 114578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+30G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+30G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+30G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+30G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2968G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+30G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+30G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+30G>C
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-80014009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014009
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014009
    reference: chr 17
allele count: 1
allele frequency: 8.810572687224669e-6
allele num: 113500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+38C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2976C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+38C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+38C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+38C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+38C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+38C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+38C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

17-80014012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014012
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014012
    reference: chr 17
allele count: 32
allele frequency: 2.80849569949096e-4
allele num: 113940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2979C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+41C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+41C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+41C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+41C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+41C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+41C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+41C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12500
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20290
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-80014013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014013
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014013
    reference: chr 17
allele count: 1
allele frequency: 8.782715615668365e-6
allele num: 113860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+42C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+42C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2980C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+42C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+42C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+42C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+42C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+42C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12438
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-80014015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014015
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014015
    reference: chr 17
allele count: 1
allele frequency: 8.78827292860407e-6
allele num: 113788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2982T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+44T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+44T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+44T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+44T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+44T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+44T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+44T>C
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
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: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-80014016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014016
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014016
    reference: chr 17
allele count: 1
allele frequency: 8.785956527087104e-6
allele num: 113818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2983C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+45C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+45C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+45C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+45C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+45C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+45C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+45C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10342
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

17-80014019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014019
    reference: chr 17
allele count: 2
allele frequency: 1.763761751062667e-5
allele num: 113394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+48C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2986C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+48C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+48C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+48C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+48C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+48C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+48C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21330
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-80014020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014020
    reference: chr 17
allele count: 137
allele frequency: 1.206835799859056e-3
allele num: 113520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2987G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+49G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21483
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 9682
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 9.75e1
  variant carriers: 123
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 4
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-80014020-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014020
    reference: chr 17
allele count: 1
allele frequency: 8.809020436927414e-6
allele num: 113520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.941+49G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.929+49G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.881+49G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.2987G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1049+49G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*846+49G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.266+49G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1049+49G>C
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-80014113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014113
    reference: chr 17
allele count: 1
allele frequency: 8.389684044498884e-6
allele num: 119194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1050-49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.882-49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1050-49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*847-49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3080G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.942-49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.930-49G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.267-49G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-80014121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014121
    reference: chr 17
allele count: 1
allele frequency: 8.386166180269028e-6
allele num: 119244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1050-41G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3088G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.267-41G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.942-41G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*847-41G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.930-41G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.882-41G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1050-41G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23920
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

17-80014126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014126
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014126
    reference: chr 17
allele count: 22
allele frequency: 1.844245116941906e-4
allele num: 119290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.930-36G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.267-36G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*847-36G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.942-36G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3093G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1050-36G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1050-36G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.882-36G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-80014143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014143
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014143
    reference: chr 17
allele count: 6
allele frequency: 5.011693952555964e-5
allele num: 119720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1050-19G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.882-19G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3110G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.930-19G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*847-19G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.942-19G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1050-19G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.267-19G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

17-80014154-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014154
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014154
    reference: chr 17
allele count: 9
allele frequency: 7.494004796163069e-5
allele num: 120096
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1050-8C>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.942-8C>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*847-8C>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1050-8C>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.882-8C>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.267-8C>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3121C>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.930-8C>G
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12531
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1050-8C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-80014174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014174
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014174
    reference: chr 17
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3141G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.279G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.894G>A
  hgvsp: ENST00000320548.4:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1062G>A
  hgvsp: ENST00000392358.2:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*859G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.942G>A
  hgvsp: ENST00000578552.1:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1062G>A
  hgvsp: ENST00000355130.2:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.954G>A
  hgvsp: ENST00000306823.6:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu354Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-80014183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014183
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014183
    reference: chr 17
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1071G>A
  hgvsp: ENST00000392358.2:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*868G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.288G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.951G>A
  hgvsp: ENST00000578552.1:c.951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3150G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1071G>A
  hgvsp: ENST00000355130.2:c.1071G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.963G>A
  hgvsp: ENST00000306823.6:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.903G>A
  hgvsp: ENST00000320548.4:c.903G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu357Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-80014186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014186
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014186
    reference: chr 17
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3153G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1074G>A
  hgvsp: ENST00000392358.2:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.966G>A
  hgvsp: ENST00000306823.6:c.966G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1074G>A
  hgvsp: ENST00000355130.2:c.1074G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.906G>A
  hgvsp: ENST00000320548.4:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.954G>A
  hgvsp: ENST00000578552.1:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.291G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*871G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu358Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-80014195-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014195
    reference: chr 17
allele count: 40
allele frequency: 3.310984190050492e-4
allele num: 120810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.915G>A
  hgvsp: ENST00000320548.4:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.300G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1083G>A
  hgvsp: ENST00000392358.2:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.963G>A
  hgvsp: ENST00000578552.1:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1083G>A
  hgvsp: ENST00000355130.2:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.975G>A
  hgvsp: ENST00000306823.6:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3162G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*880G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln361Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-80014196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014196
    reference: chr 17
allele count: 96
allele frequency: 7.946230506903287e-4
allele num: 120812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.964G>A
  hgvsp: ENSP00000462265.1:p.Val322Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1084G>A
  hgvsp: ENSP00000376167.2:p.Val362Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*881G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1084G>A
  hgvsp: ENSP00000347251.2:p.Val362Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.301G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.976G>A
  hgvsp: ENSP00000302873.6:p.Val326Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.916G>A
  hgvsp: ENSP00000313569.4:p.Val306Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3163G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25146
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36286
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val362Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-80014222-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014222
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014222
    reference: chr 17
allele count: 6
allele frequency: 4.965983016338084e-5
allele num: 120822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3189C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.990C>T
  hgvsp: ENST00000578552.1:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*907C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1002C>T
  hgvsp: ENST00000306823.6:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1110C>T
  hgvsp: ENST00000392358.2:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.327C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.942C>T
  hgvsp: ENST00000320548.4:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1110C>T
  hgvsp: ENST00000355130.2:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5152
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr370Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

17-80014234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014234
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014234
    reference: chr 17
allele count: 3
allele frequency: 2.483690432824453e-5
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3201C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.954C>T
  hgvsp: ENST00000320548.4:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1014C>T
  hgvsp: ENST00000306823.6:c.1014C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1122C>T
  hgvsp: ENST00000355130.2:c.1122C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1122C>T
  hgvsp: ENST00000392358.2:c.1122C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1002C>T
  hgvsp: ENST00000578552.1:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.339C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*919C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25240
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5147
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Tyr374Tyr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-80014235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014235
    reference: chr 17
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.340G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1015G>A
  hgvsp: ENSP00000302873.6:p.Ala339Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1123G>A
  hgvsp: ENSP00000347251.2:p.Ala375Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1003G>A
  hgvsp: ENSP00000462265.1:p.Ala335Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*920G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1123G>A
  hgvsp: ENSP00000376167.2:p.Ala375Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.955G>A
  hgvsp: ENSP00000313569.4:p.Ala319Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3202G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala375Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-80014243-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014243
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014243
    reference: chr 17
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1011T>C
  hgvsp: ENST00000578552.1:c.1011T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*928T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1131T>C
  hgvsp: ENST00000355130.2:c.1131T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3210T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1023T>C
  hgvsp: ENST00000306823.6:c.1023T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.963T>C
  hgvsp: ENST00000320548.4:c.963T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.348T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1131T>C
  hgvsp: ENST00000392358.2:c.1131T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys377Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-80014246-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014246
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014246
    reference: chr 17
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.966C>A
  hgvsp: ENST00000320548.4:c.966C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*931C>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1026C>A
  hgvsp: ENST00000306823.6:c.1026C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1014C>A
  hgvsp: ENST00000578552.1:c.1014C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1134C>A
  hgvsp: ENST00000392358.2:c.1134C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3213C>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.351C>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1134C>A
  hgvsp: ENST00000355130.2:c.1134C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu378Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-80014255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014255
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014255
    reference: chr 17
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3222G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.975G>A
  hgvsp: ENST00000320548.4:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.360G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*940G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1035G>A
  hgvsp: ENST00000306823.6:c.1035G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1143G>A
  hgvsp: ENST00000355130.2:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1023G>A
  hgvsp: ENST00000578552.1:c.1023G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1143G>A
  hgvsp: ENST00000392358.2:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu381Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

17-80014256-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014256
    reference: chr 17
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1144G>C
  hgvsp: ENSP00000376167.2:p.Asp382His
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1024G>C
  hgvsp: ENSP00000462265.1:p.Asp342His
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3223G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.361G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1144G>C
  hgvsp: ENSP00000347251.2:p.Asp382His
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*941G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1036G>C
  hgvsp: ENSP00000302873.6:p.Asp346His
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.976G>C
  hgvsp: ENSP00000313569.4:p.Asp326His
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp382His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-80014257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014257
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014257
    reference: chr 17
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1145A>G
  hgvsp: ENSP00000347251.2:p.Asp382Gly
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*942A>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3224A>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1025A>G
  hgvsp: ENSP00000462265.1:p.Asp342Gly
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.977A>G
  hgvsp: ENSP00000313569.4:p.Asp326Gly
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1037A>G
  hgvsp: ENSP00000302873.6:p.Asp346Gly
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.362A>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1145A>G
  hgvsp: ENSP00000376167.2:p.Asp382Gly
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp382Gly
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-80014258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014258
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014258
    reference: chr 17
allele count: 4
allele frequency: 3.315484972564362e-5
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*943C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1026C>T
  hgvsp: ENST00000578552.1:c.1026C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.978C>T
  hgvsp: ENST00000320548.4:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1146C>T
  hgvsp: ENST00000355130.2:c.1146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3225C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1038C>T
  hgvsp: ENST00000306823.6:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1146C>T
  hgvsp: ENST00000392358.2:c.1146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.363C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5142
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp382Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

17-80014259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014259
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014259
    reference: chr 17
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1147G>A
  hgvsp: ENSP00000376167.2:p.Glu383Lys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1027G>A
  hgvsp: ENSP00000462265.1:p.Glu343Lys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.979G>A
  hgvsp: ENSP00000313569.4:p.Glu327Lys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3226G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1147G>A
  hgvsp: ENSP00000347251.2:p.Glu383Lys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.364G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1039G>A
  hgvsp: ENSP00000302873.6:p.Glu347Lys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*944G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35926
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu383Lys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-80014261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014261
    reference: chr 17
allele count: 6
allele frequency: 4.976279733271406e-5
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1029G>A
  hgvsp: ENST00000578552.1:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.981G>A
  hgvsp: ENST00000320548.4:c.981G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1041G>A
  hgvsp: ENST00000306823.6:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1149G>A
  hgvsp: ENST00000392358.2:c.1149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3228G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1149G>A
  hgvsp: ENST00000355130.2:c.1149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.366G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*946G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu383Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-80014264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014264
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014264
    reference: chr 17
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.984G>A
  hgvsp: ENSP00000313569.4:p.Met328Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1032G>A
  hgvsp: ENSP00000462265.1:p.Met344Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3231G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1152G>A
  hgvsp: ENSP00000376167.2:p.Met384Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1044G>A
  hgvsp: ENSP00000302873.6:p.Met348Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.369G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*949G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1152G>A
  hgvsp: ENSP00000347251.2:p.Met384Ile
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met384Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-80014272-G-GCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014272
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014274
    reference: chr 17
allele count: 10714
allele frequency: 8.901480533723267e-2
allele num: 120362
alternate allele: GCC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.987+8_987+9dupCC
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*952+8_*952+9dupCC
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+8_3234+9dupCC
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1035+8_1035+9dupCC
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1047+8_1047+9dupCC
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1155+8_1155+9dupCC
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.380_381dupCC
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1155+8_1155+9dupCC
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 9.75e1
  variant carriers: 1673
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 2.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 924
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 986
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.25e1
  variant carriers: 734
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.75e1
  variant carriers: 783
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.75e1
  variant carriers: 240
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.25e1
  variant carriers: 498
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 24786
  bin: 2.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 966
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.75e1
  variant carriers: 543
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 635
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.75e1
  variant carriers: 810
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 664
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33651
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7709
  bin: 6.75e1
  variant carriers: 4
hgvs: c.1155+8_1155+9dupCC
num of homozygotes: 492
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-80014276-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014276
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014276
    reference: chr 17
allele count: 8
allele frequency: 6.651368519072799e-5
allele num: 120276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1035+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*952+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1047+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1155+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.381C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.987+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1155+9C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+9C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

17-80014286-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014286
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014286
    reference: chr 17
allele count: 1
allele frequency: 8.335973058135075e-6
allele num: 119962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.391A>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1155+19A>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1035+19A>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1047+19A>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*952+19A>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+19A>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.987+19A>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1155+19A>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-80014288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014288
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014288
    reference: chr 17
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1047+21G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.393G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1155+21G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.987+21G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*952+21G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1155+21G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1035+21G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+21G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-80014298-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014298
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014298
    reference: chr 17
allele count: 1
allele frequency: 8.324592511196577e-6
allele num: 120126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.403G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.987+31G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*952+31G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1155+31G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1047+31G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1155+31G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+31G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1035+31G>C
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9189
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-80014300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014300
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014300
    reference: chr 17
allele count: 1
allele frequency: 8.334444592612349e-6
allele num: 119984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.405G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1035+33G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.987+33G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+33G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1047+33G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*952+33G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1155+33G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1155+33G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

17-80014305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014305
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014305
    reference: chr 17
allele count: 718
allele frequency: 5.977455502089612e-3
allele num: 120118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+38G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*952+38G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1047+38G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.410G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1155+38G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1035+38G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.987+38G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1155+38G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 14211
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 30172
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 12
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-80014309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014309
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014309
    reference: chr 17
allele count: 3
allele frequency: 2.496920464760129e-5
allele num: 120148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1156-37G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1048-37G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.414G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1156-37G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1036-37G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.988-37G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+42G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*953-37G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

17-80014310-GCCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014310
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014307
    reference: chr 17
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*953-32_*953-30delCCT
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1156-32_1156-30delCCT
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.988-32_988-30delCCT
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.419_421delCCT
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+47_3234+49delCCT
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1156-32_1156-30delCCT
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1048-32_1048-30delCCT
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1036-32_1036-30delCCT
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30572
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GCCT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-80014320-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014320
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014320
    reference: chr 17
allele count: 1
allele frequency: 8.32639467110741e-6
allele num: 120100
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1156-26C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*953-26C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1048-26C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.425C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1036-26C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+53C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.988-26C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1156-26C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-80014333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014333
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014333
    reference: chr 17
allele count: 9
allele frequency: 7.495003331112592e-5
allele num: 120080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1156-13G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*953-13G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1156-13G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.988-13G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.438G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1036-13G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+66G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1048-13G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-80014336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014336
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014336
    reference: chr 17
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1156-10C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1036-10C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*953-10C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1048-10C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.988-10C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.441C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+69C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1156-10C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-80014340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014340
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014340
    reference: chr 17
allele count: 1
allele frequency: 8.328336331534413e-6
allele num: 120072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*953-6C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.988-6C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1036-6C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1156-6C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+73C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.445C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1156-6C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1048-6C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41741
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1156-6C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-80014341-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014341
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014341
    reference: chr 17
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1156-5C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*953-5C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1036-5C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+74C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1156-5C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1048-5C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.446C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.988-5C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1156-5C>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-80014357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014357
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014357
    reference: chr 17
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1167C>T
  hgvsp: ENST00000355130.2:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1059C>T
  hgvsp: ENST00000306823.6:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1167C>T
  hgvsp: ENST00000392358.2:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+90C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.462C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.999C>T
  hgvsp: ENST00000320548.4:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1047C>T
  hgvsp: ENST00000578552.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*964C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30683
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42040
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu389Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-80014360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014360
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014360
    reference: chr 17
allele count: 1
allele frequency: 8.329585020074299e-6
allele num: 120054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1002G>A
  hgvsp: ENST00000320548.4:c.1002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1050G>A
  hgvsp: ENST00000578552.1:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.465G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1062G>A
  hgvsp: ENST00000306823.6:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*967G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1170G>A
  hgvsp: ENST00000355130.2:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+93G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1170G>A
  hgvsp: ENST00000392358.2:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30693
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu390Leu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-80014364-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014364
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014364
    reference: chr 17
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+97A>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1066A>G
  hgvsp: ENSP00000302873.6:p.Met356Val
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*971A>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1006A>G
  hgvsp: ENSP00000313569.4:p.Met336Val
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1054A>G
  hgvsp: ENSP00000462265.1:p.Met352Val
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1174A>G
  hgvsp: ENSP00000376167.2:p.Met392Val
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1174A>G
  hgvsp: ENSP00000347251.2:p.Met392Val
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.469A>G
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met392Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

17-80014365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014365
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014365
    reference: chr 17
allele count: 2
allele frequency: 1.665778251599147e-5
allele num: 120064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1007T>C
  hgvsp: ENSP00000313569.4:p.Met336Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1067T>C
  hgvsp: ENSP00000302873.6:p.Met356Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1055T>C
  hgvsp: ENSP00000462265.1:p.Met352Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+98T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*972T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1175T>C
  hgvsp: ENSP00000347251.2:p.Met392Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1175T>C
  hgvsp: ENSP00000376167.2:p.Met392Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.470T>C
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met392Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-80014368-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014368
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014368
    reference: chr 17
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1010A>G
  hgvsp: ENSP00000313569.4:p.Tyr337Cys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1058A>G
  hgvsp: ENSP00000462265.1:p.Tyr353Cys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1070A>G
  hgvsp: ENSP00000302873.6:p.Tyr357Cys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1178A>G
  hgvsp: ENSP00000347251.2:p.Tyr393Cys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+101A>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1178A>G
  hgvsp: ENSP00000376167.2:p.Tyr393Cys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*975A>G
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.473A>G
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr393Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

17-80014369-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014369
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014369
    reference: chr 17
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*976T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1011T>C
  hgvsp: ENST00000320548.4:c.1011T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1179T>C
  hgvsp: ENST00000392358.2:c.1179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.474T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1071T>C
  hgvsp: ENST00000306823.6:c.1071T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1059T>C
  hgvsp: ENST00000578552.1:c.1059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1179T>C
  hgvsp: ENST00000355130.2:c.1179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+102T>C
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42259
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr393Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

17-80014381-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014381
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014381
    reference: chr 17
allele count: 3
allele frequency: 2.500041667361123e-5
allele num: 119998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1023T>C
  hgvsp: ENST00000320548.4:c.1023T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.486T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1191T>C
  hgvsp: ENST00000392358.2:c.1191T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1083T>C
  hgvsp: ENST00000306823.6:c.1083T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1071T>C
  hgvsp: ENST00000578552.1:c.1071T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+114T>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1191T>C
  hgvsp: ENST00000355130.2:c.1191T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*988T>C
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 3
hgvs: p.His397His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-80014382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014382
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014382
    reference: chr 17
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1192G>A
  hgvsp: ENSP00000376167.2:p.Val398Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+115G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1072G>A
  hgvsp: ENSP00000462265.1:p.Val358Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1024G>A
  hgvsp: ENSP00000313569.4:p.Val342Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*989G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1084G>A
  hgvsp: ENSP00000302873.6:p.Val362Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1192G>A
  hgvsp: ENSP00000347251.2:p.Val398Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.487G>A
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val398Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-80014386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014386
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014386
    reference: chr 17
allele count: 1
allele frequency: 8.33541718763024e-6
allele num: 119970
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1196G>A
  hgvsp: ENSP00000376167.2:p.Arg399Lys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+119G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1088G>A
  hgvsp: ENSP00000302873.6:p.Arg363Lys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.491G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*993G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1076G>A
  hgvsp: ENSP00000462265.1:p.Arg359Lys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1028G>A
  hgvsp: ENSP00000313569.4:p.Arg343Lys
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1196G>A
  hgvsp: ENSP00000347251.2:p.Arg399Lys
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg399Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-80014386-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014386
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014386
    reference: chr 17
allele count: 2
allele frequency: 1.667083437526048e-5
allele num: 119970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.491G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1196G>C
  hgvsp: ENSP00000376167.2:p.Arg399Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1028G>C
  hgvsp: ENSP00000313569.4:p.Arg343Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1196G>C
  hgvsp: ENSP00000347251.2:p.Arg399Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*993G>C
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1088G>C
  hgvsp: ENSP00000302873.6:p.Arg363Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1076G>C
  hgvsp: ENSP00000462265.1:p.Arg359Thr
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3234+119G>C
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg399Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-80014387-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014387
    reference: chr 17
allele count: 1
allele frequency: 8.335556148306214e-6
allele num: 119968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1029G>A
  hgvsp: ENST00000320548.4:c.1029G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1089G>A
  hgvsp: ENST00000306823.6:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.492G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1197G>A
  hgvsp: ENST00000392358.2:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*994G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1077G>A
  hgvsp: ENST00000578552.1:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3235-118G>A
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1197G>A
  hgvsp: ENST00000355130.2:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg399Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-80014389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80014389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80014389
    reference: chr 17
allele count: 1
allele frequency: 8.33694600993764e-6
allele num: 119948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000392357
  gene symbol: GPS1
  hgvsc: ENST00000392357.1:n.3235-116C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000376167
  ensembl transcript: ENST00000392358
  gene symbol: GPS1
  hgvsc: ENST00000392358.2:c.1199C>T
  hgvsp: ENSP00000376167.2:p.Thr400Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000313569
  ensembl transcript: ENST00000320548
  gene symbol: GPS1
  hgvsc: ENST00000320548.4:c.1031C>T
  hgvsp: ENSP00000313569.4:p.Thr344Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000302873
  ensembl transcript: ENST00000306823
  gene symbol: GPS1
  hgvsc: ENST00000306823.6:c.1091C>T
  hgvsp: ENSP00000302873.6:p.Thr364Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462265
  ensembl transcript: ENST00000578552
  gene symbol: GPS1
  hgvsc: ENST00000578552.1:c.1079C>T
  hgvsp: ENSP00000462265.1:p.Thr360Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169727
  ensembl transcript: ENST00000578279
  gene symbol: GPS1
  hgvsc: ENST00000578279.1:n.494C>T
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000347251
  ensembl transcript: ENST00000355130
  gene symbol: GPS1
  hgvsc: ENST00000355130.2:c.1199C>T
  hgvsp: ENSP00000347251.2:p.Thr400Ile
  variant of: http://identifiers.org/hgnc/4549
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169727
  ensembl protein: ENSP00000462297
  ensembl transcript: ENST00000584460
  gene symbol: GPS1
  hgvsc: ENST00000584460.1:c.*996C>T
  variant of: http://identifiers.org/hgnc/4549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr400Ile
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1099
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560305819940709e-5
allele num: 64090
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.430836e6

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: -1.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.285e-1

QD
type: SiteQuality
SIO_000300: 1.05e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

GenotypeQuality
all individuals: 1360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560305819940709e-5
allele num: 64090
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.162e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.167e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

QD
type: SiteQuality
SIO_000300: 8.19e0

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 1.429719e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

GenotypeQuality
all individuals: 405
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variant carriers: 0

GenotypeQuality
all individuals: 483
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 489
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1954
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variant carriers: 0

GenotypeQuality
all individuals: 1261
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6188
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variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.343017806935333e-4
allele num: 8536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 3.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

DP
type: SiteQuality
SIO_000300: 1.424349e6

QD
type: SiteQuality
SIO_000300: 1.131e1

GenotypeQuality
all individuals: 1932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.1667488899852e-5
allele num: 16216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.866e0

VQSLOD
type: SiteQuality
SIO_000300: -1.571e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.05e1

MQ
type: SiteQuality
SIO_000300: 5.8e1

DP
type: SiteQuality
SIO_000300: 1.411388e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 6035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
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variant carriers: 0

GenotypeQuality
all individuals: 1725
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variant carriers: 0

GenotypeQuality
all individuals: 1929
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567398119122257e-5
allele num: 63800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.407822e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.372e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.56843062831331e-5
allele num: 63758
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.235483073881888e-4
allele num: 16188
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.293e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.405448e6

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.827e0

FS
type: SiteQuality
SIO_000300: 7.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

Latino
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allele count: 0
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allele num: 11276
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.571091908876669e-5
allele num: 63650
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.573e0

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.395135e6

MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e0

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.576739932515531e-5
allele num: 63422
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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Latino
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allele num: 11254
num of homozygotes: 0

Other
type: Population
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allele num: 852
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.489e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1703
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63240
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.222775357809582e-5
allele num: 16070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 9.82e0

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 1.356911e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.042e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 9.08e0

VQSLOD
type: SiteQuality
SIO_000300: -1.027e0

GenotypeQuality
all individuals: 157
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 212
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.341757300948092e-5
allele num: 63074
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

DP
type: SiteQuality
SIO_000300: 1.354686e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 879
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.898380494749955e-5
allele num: 11238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586042823156225e-5
allele num: 63050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

QD
type: SiteQuality
SIO_000300: 3.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.749e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.351822e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 479
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 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: 844
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.89521437466643e-5
allele num: 11242
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

DP
type: SiteQuality
SIO_000300: 1.348311e6

QD
type: SiteQuality
SIO_000300: 1.38e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1329
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 244
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variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.198178768272226e-4
allele num: 8346
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 1.322986e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

FS
type: SiteQuality
SIO_000300: 8.897e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.408e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
all individuals: 1182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62816
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032417922775139e-4
allele num: 9686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.31347e6

FS
type: SiteQuality
SIO_000300: 2.851e0

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-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
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.594642002870356e-5
allele num: 62710
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: -2.186e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 1.303271e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.591e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 1.53e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18456
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.353240152477763e-5
allele num: 15740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.23e0

VQSLOD
type: SiteQuality
SIO_000300: -5.051e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.186e0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 1.295846e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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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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variant carriers: 32

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 5.127876418178322e-4
allele num: 62404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15768
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.436e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
SIO_000300: 1.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.301342e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4513
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GenotypeQuality
all individuals: 1952
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GenotypeQuality
all individuals: 1004
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variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.218917601170161e-4
allele num: 8204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.301645e6

FS
type: SiteQuality
SIO_000300: 8.462999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 555
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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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GenotypeQuality
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bin: 6.75e1
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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: 2269
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605600333964869e-5
allele num: 62282
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

DP
type: SiteQuality
SIO_000300: 1.301447e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.883e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-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
all individuals: 1956
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variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604930346022983e-5
allele num: 62308
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 4.47e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -2.541e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.303207e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2425
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variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61051343168202e-5
allele num: 62092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.225490196078431e-4
allele num: 8160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.308256e6

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2936
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
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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
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 5404
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GenotypeQuality
all individuals: 445
bin: 9.25e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 132
allele frequency: 2.12300566134843e-3
allele num: 62176
num of homozygotes: 4

Latino
type: Population
allele count: 3
allele frequency: 2.711496746203905e-4
allele num: 11064
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.228803145736053e-4
allele num: 8138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.043623460655395e-4
allele num: 9582
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.397e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

FS
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.311777e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1096
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variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15694
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.043623460655395e-4
allele num: 9582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

DP
type: SiteQuality
SIO_000300: 1.311777e6

QD
type: SiteQuality
SIO_000300: 1.397e1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523461304082876e-5
allele num: 65640
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.752e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.76e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 2.066363e6

GenotypeQuality
all individuals: 834
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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: 7.75e1
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GenotypeQuality
all individuals: 8479
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.268806419257773e-5
allele num: 15952
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.243e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

FS
type: SiteQuality
SIO_000300: 6.383e0

VQSLOD
type: SiteQuality
SIO_000300: -4.922e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 2.068671e6

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 32777
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.58862224387867e-4
allele num: 65672
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.504696305572949e-4
allele num: 15970
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.314e0

DP
type: SiteQuality
SIO_000300: 2.072672e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

GenotypeQuality
all individuals: 3071
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5254
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variant carriers: 6

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 295
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GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 1113
bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 832
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.327505625757314e-4
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51952590791673e-5
allele num: 65810
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

DP
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SIO_000300: 2.087663e6

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.538e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.213444970270598e-4
allele num: 65928
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.771350400625366e-5
allele num: 10234
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
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SIO_000300: 2.098107e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.522e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.706e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.973e0

VQSLOD
type: SiteQuality
SIO_000300: -2.474e0

DP
type: SiteQuality
SIO_000300: 2.107155e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 6.595e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.128e0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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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: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511030522816561e-5
allele num: 66180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.752e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.34e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

DP
type: SiteQuality
SIO_000300: 2.109045e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510665296996797e-5
allele num: 66196
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.432e0

VQSLOD
type: SiteQuality
SIO_000300: -1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.713e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 2.109618e6

QD
type: SiteQuality
SIO_000300: 1.2e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

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

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

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

East Asian
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allele count: 39
allele frequency: 4.512844249016431e-3
allele num: 8642
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.11487e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 95

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.547625517012348e-5
allele num: 66246
num of homozygotes: 0

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

Latino
type: Population
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allele frequency: 3.459010722933241e-4
allele num: 11564
num of homozygotes: 0

African
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allele count: 87
allele frequency: 8.405797101449276e-3
allele num: 10350
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South Asian
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Other
type: Population
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.817300702689605e-4
allele num: 16508
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East Asian
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African
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allele frequency: 1.931620629708325e-4
allele num: 10354
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European (Non-Finnish)
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allele frequency: 1.50952510340247e-5
allele num: 66246
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Latino
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num of homozygotes: 0

European (Finnish)
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allele num: 6614
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Other
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FS
type: SiteQuality
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.020235578375113e-5
allele num: 66220
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Other
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South Asian
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FS
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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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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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36258
bin: 6.25e1
variant carriers: 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: 8640
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510254628930438e-5
allele num: 66214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.14e-1

DP
type: SiteQuality
SIO_000300: 2.105658e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.616e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.894e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5109391998066e-5
allele num: 66184
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.104918e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.185e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.529e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.749e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.646e0

QD
type: SiteQuality
SIO_000300: 7.81e0

DP
type: SiteQuality
SIO_000300: 2.104497e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66116
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.107e0

QD
type: SiteQuality
SIO_000300: 1.318e1

VQSLOD
type: SiteQuality
SIO_000300: -2.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 2.103581e6

FS
type: SiteQuality
SIO_000300: 8.821e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512447442451375e-5
allele num: 66118
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.33e-1

FS
type: SiteQuality
SIO_000300: 1.265e0

DP
type: SiteQuality
SIO_000300: 2.103426e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.54e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Latino
type: Population
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
allele num: 8640
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.538165975856957e-5
allele num: 66106
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

FS
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512996641147457e-5
allele num: 66094
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

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

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

African
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allele count: 6
allele frequency: 5.820721769499418e-4
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66050
num of homozygotes: 0

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

Latino
type: Population
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 898
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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QD
type: SiteQuality
SIO_000300: 1.326e1

ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.98e1

DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5135
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66002
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.105288e6

QD
type: SiteQuality
SIO_000300: 1.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.75e-1

GenotypeQuality
all individuals: 2277
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 377
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 11491
bin: 9.75e1
variant carriers: 10213

GenotypeQuality
all individuals: 2477
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 2

African
type: Population
allele count: 1019
allele frequency: 9.902818270165209e-2
allele num: 10290
num of homozygotes: 42

South Asian
type: Population
allele count: 1444
allele frequency: 8.749394086282114e-2
allele num: 16504
num of homozygotes: 82

Other
type: Population
allele count: 104
allele frequency: 1.158129175946548e-1
allele num: 898
num of homozygotes: 8

Latino
type: Population
allele count: 1190
allele frequency: 1.030481468652581e-1
allele num: 11548
num of homozygotes: 56

European (Non-Finnish)
type: Population
allele count: 5449
allele frequency: 8.270596806508408e-2
allele num: 65884
num of homozygotes: 225

European (Finnish)
type: Population
allele count: 686
allele frequency: 1.037507562008469e-1
allele num: 6612
num of homozygotes: 42

East Asian
type: Population
allele count: 822
allele frequency: 9.529329932761418e-2
allele num: 8626
num of homozygotes: 37

FS
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.05e-1

MQ
type: SiteQuality
SIO_000300: 6.022e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.909e1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 2.137306e6

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 39725
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variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
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GenotypeQuality
all individuals: 539
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variant carriers: 0

GenotypeQuality
all individuals: 1363
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variant carriers: 0

GenotypeQuality
all individuals: 2958
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variant carriers: 0

GenotypeQuality
all individuals: 505
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variant carriers: 0

GenotypeQuality
all individuals: 9262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.597398650701999e-5
allele num: 65812
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.562e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

FS
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.449e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 1.709422e6

MQ
type: SiteQuality
SIO_000300: 5.991e1

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
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variant carriers: 0

GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 39715
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variant carriers: 0

GenotypeQuality
all individuals: 152
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variant carriers: 0

GenotypeQuality
all individuals: 1319
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 2934
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variant carriers: 0

GenotypeQuality
all individuals: 2702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524297298945186e-5
allele num: 65604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.695145e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

QD
type: SiteQuality
SIO_000300: 8.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

GenotypeQuality
all individuals: 39753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
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variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
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variant carriers: 1

GenotypeQuality
all individuals: 258
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 9183
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65688
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.281e0

FS
type: SiteQuality
SIO_000300: 1.203e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.147e1

DP
type: SiteQuality
SIO_000300: 1.687859e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40083
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variant carriers: 0

GenotypeQuality
all individuals: 1846
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variant carriers: 1

GenotypeQuality
all individuals: 1268
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 180
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variant carriers: 0

GenotypeQuality
all individuals: 156
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GenotypeQuality
all individuals: 2638
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variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: -1.387e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.021e0

DP
type: SiteQuality
SIO_000300: 1.677925e6

FS
type: SiteQuality
SIO_000300: 4.825e0

VQSLOD
type: SiteQuality
SIO_000300: -6.427e-1

MQ
type: SiteQuality
SIO_000300: 6.017e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.923e0

QD
type: SiteQuality
SIO_000300: 1.319e1

GenotypeQuality
all individuals: 241
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
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GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 2835
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GenotypeQuality
all individuals: 39657
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GenotypeQuality
all individuals: 1819
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variant carriers: 1

GenotypeQuality
all individuals: 482
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GenotypeQuality
all individuals: 2592
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variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524111443028714e-5
allele num: 65612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.567e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.674414e6

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40249
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variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.75e1
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GenotypeQuality
all individuals: 469
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GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 2822
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1926
bin: 9.75e1
variant carriers: 702

GenotypeQuality
all individuals: 9041
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 577
allele frequency: 5.009550269143949e-2
allele num: 11518
num of homozygotes: 12

African
type: Population
allele count: 7
allele frequency: 6.827936012485369e-4
allele num: 10252
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: 3
allele frequency: 3.36322869955157e-3
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 129
allele frequency: 1.963052013269623e-3
allele num: 65714
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.664e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

FS
type: SiteQuality
SIO_000300: 5.8e-1

DP
type: SiteQuality
SIO_000300: 1.672442e6

QD
type: SiteQuality
SIO_000300: 1.394e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.122e0

GenotypeQuality
all individuals: 2832
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
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variant carriers: 0

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

GenotypeQuality
all individuals: 2601
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variant carriers: 0

GenotypeQuality
all individuals: 147
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GenotypeQuality
all individuals: 222
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GenotypeQuality
all individuals: 9131
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GenotypeQuality
all individuals: 395
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variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 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: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5639870991298e-5
allele num: 65732
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.848e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

FS
type: SiteQuality
SIO_000300: 1.845e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.65045e6

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 8.25e1
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GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 173
bin: 4.75e1
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GenotypeQuality
all individuals: 2826
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GenotypeQuality
all individuals: 40919
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variant carriers: 0

GenotypeQuality
all individuals: 78
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GenotypeQuality
all individuals: 469
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.521560512461581e-5
allele num: 65722
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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QD
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East 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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65694
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Other
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num of homozygotes: 0

MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 5.453884377651194e-4
allele num: 16502
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European (Finnish)
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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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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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MQ
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VQSLOD
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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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GenotypeQuality
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East Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 6596
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.522579859313621e-5
allele num: 65678
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.522348069662648e-5
allele num: 65688
num of homozygotes: 0

Latino
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Other
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num of homozygotes: 0

MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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allele num: 65682
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Latino
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FS
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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QD
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MQ
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.044696139325295e-5
allele num: 65688
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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QD
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FS
type: SiteQuality
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DP
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -8.0e-4

ReadPosRankSum
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SIO_000300: 1.11e0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.522301720200944e-5
allele num: 65690
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

VQSLOD
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SIO_000300: -1.737e0

MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 5.973e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.062e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 892
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65672
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
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SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 8.51e0

VQSLOD
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SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.640504e6

ReadPosRankSum
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SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.046736944732192e-5
allele num: 65644
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
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FS
type: SiteQuality
SIO_000300: 1.748e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

DP
type: SiteQuality
SIO_000300: 1.639254e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523414886810274e-5
allele num: 65642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.639204e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.637e0

FS
type: SiteQuality
SIO_000300: 3.561e0

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523693432881304e-5
allele num: 65630
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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QD
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FS
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 892
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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.047386865762609e-5
allele num: 65630
num of homozygotes: 0

South Asian
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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

East Asian
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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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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.523693432881304e-5
allele num: 65630
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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FS
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QD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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MQ
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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