16-28995333-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995333
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995333
    reference: chr 16
allele count: 1
allele frequency: 1.11150631335586e-5
allele num: 89968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1273+55A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1492+55A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1336+55A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-193A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.444+55A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2341+55A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455429
  ensembl transcript: ENST00000564476
  gene symbol: SPNS1
  hgvsc: ENST00000564476.1:c.*20A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1270+55A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1627+55A>T
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  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: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-28995336-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995336
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995336
    reference: chr 16
allele count: 1
allele frequency: 1.117668097281831e-5
allele num: 89472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-190T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1270+58T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455429
  ensembl transcript: ENST00000564476
  gene symbol: SPNS1
  hgvsc: ENST00000564476.1:c.*23T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2341+58T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1627+58T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1273+58T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1336+58T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.444+58T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1492+58T>C
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17832
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

16-28995337-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995337
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995337
    reference: chr 16
allele count: 1
allele frequency: 1.124328213892199e-5
allele num: 88942
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1273+59G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1336+59G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455429
  ensembl transcript: ENST00000564476
  gene symbol: SPNS1
  hgvsc: ENST00000564476.1:c.*24G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1627+59G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.444+59G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1492+59G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1270+59G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2341+59G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-189G>C
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-28995345-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995345
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995345
    reference: chr 16
allele count: 4
allele frequency: 4.701789030726192e-5
allele num: 85074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455429
  ensembl transcript: ENST00000564476
  gene symbol: SPNS1
  hgvsc: ENST00000564476.1:c.*32A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.444+67A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1336+67A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1270+67A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1273+67A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1492+67A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2341+67A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-181A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1627+67A>G
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17594
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP

16-28995348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995348
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995348
    reference: chr 16
allele count: 1
allele frequency: 1.184328959211711e-5
allele num: 84436
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2341+70C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.444+70C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455429
  ensembl transcript: ENST00000564476
  gene symbol: SPNS1
  hgvsc: ENST00000564476.1:c.*35C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1627+70C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1270+70C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1336+70C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-178C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1273+70C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1492+70C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13938
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6514
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

16-28995350-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995350
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995350
    reference: chr 16
allele count: 1
allele frequency: 1.180219520830875e-5
allele num: 84730
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1492+72T>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2341+72T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1270+72T>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1273+72T>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1336+72T>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.444+72T>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1627+72T>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-176T>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455429
  ensembl transcript: ENST00000564476
  gene symbol: SPNS1
  hgvsc: ENST00000564476.1:c.*37T>G
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17247
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/16-28995355-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995355
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995354
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 82184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1336+79delC
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1492+79delC
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455429
  ensembl transcript: ENST00000564476
  gene symbol: SPNS1
  hgvsc: ENST00000564476.1:c.*44delC
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-169delC
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1270+79delC
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.444+79delC
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1627+79delC
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1273+79delC
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2341+79delC
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11011
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: AC
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

16-28995481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995481
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995481
    reference: chr 16
allele count: 1
allele frequency: 9.43930526713234e-6
allele num: 105940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-45T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.445-45T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2342-45T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1628-45T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1271-45T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1493-45T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1274-45T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1337-45T>C
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-28995490-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995490
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995490
    reference: chr 16
allele count: 1
allele frequency: 9.427914168269412e-6
allele num: 106068
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2342-36A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1493-36A>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1337-36A>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1274-36A>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.445-36A>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1628-36A>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1271-36A>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-36A>C
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38306
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

16-28995499-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995499
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995499
    reference: chr 16
allele count: 1
allele frequency: 9.420276202498257e-6
allele num: 106154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-27A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1628-27A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1337-27A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1493-27A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1274-27A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.445-27A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1271-27A>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2342-27A>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

16-28995519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995519
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995519
    reference: chr 16
allele count: 5
allele frequency: 4.678931706312815e-5
allele num: 106862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1274-7C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2342-7C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1271-7C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-7C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.445-7C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1337-7C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1628-7C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1493-7C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40497
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1493-7C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

16-28995519-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995519
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995519
    reference: chr 16
allele count: 1
allele frequency: 9.35786341262563e-6
allele num: 106862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1274-7C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1271-7C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1628-7C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2342-7C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-7C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1493-7C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1337-7C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.445-7C>G
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1493-7C>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/16-28995520-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995520
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995520
    reference: chr 16
allele count: 1
allele frequency: 9.353836943914394e-6
allele num: 106908
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1493-6C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1337-6C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1271-6C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2342-6C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.445-6C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1274-6C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1628-6C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-6C>A
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1493-6C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

16-28995520-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995520
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995520
    reference: chr 16
allele count: 2
allele frequency: 1.870767388782879e-5
allele num: 106908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1628-6C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2342-6C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.445-6C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1271-6C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1337-6C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1274-6C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-6C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1493-6C>G
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1493-6C>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

16-28995521-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995521
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995521
    reference: chr 16
allele count: 77
allele frequency: 7.202319708165747e-4
allele num: 106910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1337-5C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2342-5C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.445-5C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1274-5C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1493-5C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-5C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1628-5C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1271-5C>G
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 26334
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40372
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
hgvs: n.2342-5C>G
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-28995521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995521
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995521
    reference: chr 16
allele count: 1
allele frequency: 9.353661958656814e-6
allele num: 106910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.445-5C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1493-5C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1628-5C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1274-5C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1271-5C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2342-5C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-5C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1337-5C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1493-5C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

16-28995521-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995521
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995520
    reference: chr 16
allele count: 2
allele frequency: 1.870732391731363e-5
allele num: 106910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1271-4delT
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1493-4delT
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1628-4delT
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.445-4delT
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1337-4delT
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1274-4delT
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2342-4delT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1303-4delT
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
hgvs: n.2342-4delT
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: CT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

16-28995536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995536
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995536
    reference: chr 16
allele count: 1
allele frequency: 9.281087000909547e-6
allele num: 107746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1638C>T
  hgvsp: ENST00000565975.1:c.1638C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1347C>T
  hgvsp: ENST00000334536.8:c.1347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.455C>T
  hgvsp: ENST00000568829.1:c.455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1503C>T
  hgvsp: ENST00000311008.11:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1281C>T
  hgvsp: ENST00000352260.7:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1284C>T
  hgvsp: ENST00000323081.8:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1313C>T
  hgvsp: ENSP00000456119.1:p.Thr438Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2352C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr438Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

16-28995537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995537
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995537
    reference: chr 16
allele count: 3
allele frequency: 2.780352177942539e-5
allele num: 107900
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1504G>A
  hgvsp: ENSP00000309945.11:p.Glu502Lys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2353G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1314G>A
  hgvsp: ENST00000566059.1:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1639G>A
  hgvsp: ENSP00000454360.1:p.Glu547Lys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.456G>A
  hgvsp: ENSP00000455467.1:p.Glu153Lys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1348G>A
  hgvsp: ENSP00000335494.8:p.Glu450Lys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1282G>A
  hgvsp: ENSP00000306050.10:p.Glu428Lys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1285G>A
  hgvsp: ENSP00000318228.8:p.Glu429Lys
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu502Lys
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: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

16-28995538-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995538
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995538
    reference: chr 16
allele count: 5
allele frequency: 4.630315602311453e-5
allele num: 107984
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1505A>G
  hgvsp: ENSP00000309945.11:p.Glu502Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.457A>G
  hgvsp: ENSP00000455467.1:p.Glu153Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1286A>G
  hgvsp: ENSP00000318228.8:p.Glu429Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2354A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1640A>G
  hgvsp: ENSP00000454360.1:p.Glu547Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1349A>G
  hgvsp: ENSP00000335494.8:p.Glu450Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1315A>G
  hgvsp: ENSP00000456119.1:p.Lys439Glu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1283A>G
  hgvsp: ENSP00000306050.10:p.Glu428Gly
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu502Gly
num of homozygotes: 1
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

16-28995554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995554
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995554
    reference: chr 16
allele count: 10
allele frequency: 9.160193463285945e-5
allele num: 109168
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1521C>T
  hgvsp: ENST00000311008.11:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1302C>T
  hgvsp: ENST00000323081.8:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1365C>T
  hgvsp: ENST00000334536.8:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2370C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1299C>T
  hgvsp: ENST00000352260.7:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1656C>T
  hgvsp: ENST00000565975.1:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.473C>T
  hgvsp: ENST00000568829.1:c.473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1331C>T
  hgvsp: ENSP00000456119.1:p.Thr444Met
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr444Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

16-28995555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995555
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995555
    reference: chr 16
allele count: 2
allele frequency: 1.827385194525154e-5
allele num: 109446
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1522G>A
  hgvsp: ENSP00000309945.11:p.Asp508Asn
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2371G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1303G>A
  hgvsp: ENSP00000318228.8:p.Asp435Asn
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.474G>A
  hgvsp: ENSP00000455467.1:p.Asp159Asn
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1366G>A
  hgvsp: ENSP00000335494.8:p.Asp456Asn
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1657G>A
  hgvsp: ENSP00000454360.1:p.Asp553Asn
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1332G>A
  hgvsp: ENST00000566059.1:c.1332G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1300G>A
  hgvsp: ENSP00000306050.10:p.Asp434Asn
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp508Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

16-28995558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995558
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995558
    reference: chr 16
allele count: 1
allele frequency: 9.108131740017488e-6
allele num: 109792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1335C>T
  hgvsp: ENST00000566059.1:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2374C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1525C>T
  hgvsp: ENSP00000309945.11:p.Arg509Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1369C>T
  hgvsp: ENSP00000335494.8:p.Arg457Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1660C>T
  hgvsp: ENSP00000454360.1:p.Arg554Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.477C>T
  hgvsp: ENSP00000455467.1:p.Arg160Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1303C>T
  hgvsp: ENSP00000306050.10:p.Arg435Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1306C>T
  hgvsp: ENSP00000318228.8:p.Arg436Trp
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5724
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg509Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

16-28995559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995559
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995559
    reference: chr 16
allele count: 2
allele frequency: 1.817553935913048e-5
allele num: 110038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1336G>A
  hgvsp: ENSP00000456119.1:p.Gly446Arg
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2375G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1304G>A
  hgvsp: ENSP00000306050.10:p.Arg435Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1661G>A
  hgvsp: ENSP00000454360.1:p.Arg554Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.478G>A
  hgvsp: ENSP00000455467.1:p.Arg160Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1307G>A
  hgvsp: ENSP00000318228.8:p.Arg436Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1526G>A
  hgvsp: ENSP00000309945.11:p.Arg509Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1370G>A
  hgvsp: ENSP00000335494.8:p.Arg457Gln
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg509Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

16-28995559-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995559
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995559
    reference: chr 16
allele count: 24
allele frequency: 2.181064723095658e-4
allele num: 110038
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2375G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1336G>C
  hgvsp: ENSP00000456119.1:p.Gly446Arg
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1526G>C
  hgvsp: ENSP00000309945.11:p.Arg509Pro
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1370G>C
  hgvsp: ENSP00000335494.8:p.Arg457Pro
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1661G>C
  hgvsp: ENSP00000454360.1:p.Arg554Pro
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.478G>C
  hgvsp: ENSP00000455467.1:p.Arg160Pro
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1304G>C
  hgvsp: ENSP00000306050.10:p.Arg435Pro
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1307G>C
  hgvsp: ENSP00000318228.8:p.Arg436Pro
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26610
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg509Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

16-28995562-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995562
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995562
    reference: chr 16
allele count: 2
allele frequency: 1.809921992362129e-5
allele num: 110502
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1307T>C
  hgvsp: ENSP00000306050.10:p.Ile436Thr
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1373T>C
  hgvsp: ENSP00000335494.8:p.Ile458Thr
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1339T>C
  hgvsp: ENST00000566059.1:c.1339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1664T>C
  hgvsp: ENSP00000454360.1:p.Ile555Thr
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1310T>C
  hgvsp: ENSP00000318228.8:p.Ile437Thr
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.481T>C
  hgvsp: ENSP00000455467.1:p.Ile161Thr
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1529T>C
  hgvsp: ENSP00000309945.11:p.Ile510Thr
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2378T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile510Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/16-28995572-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995572
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995572
    reference: chr 16
allele count: 3
allele frequency: 2.694110674066491e-5
allele num: 111354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1320C>A
  hgvsp: ENST00000323081.8:c.1320C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1349C>A
  hgvsp: ENSP00000456119.1:p.Pro450His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2388C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1317C>A
  hgvsp: ENST00000352260.7:c.1317C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.491C>A
  hgvsp: ENST00000568829.1:c.491C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1539C>A
  hgvsp: ENST00000311008.11:c.1539C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1383C>A
  hgvsp: ENST00000334536.8:c.1383C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1674C>A
  hgvsp: ENST00000565975.1:c.1674C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7649
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro450His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

16-28995576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995576
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995576
    reference: chr 16
allele count: 1
allele frequency: 8.910908734472741e-6
allele num: 112222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.495C>T
  hgvsp: ENSP00000455467.1:p.Arg166Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1387C>T
  hgvsp: ENSP00000335494.8:p.Arg463Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1324C>T
  hgvsp: ENSP00000318228.8:p.Arg442Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1543C>T
  hgvsp: ENSP00000309945.11:p.Arg515Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1678C>T
  hgvsp: ENSP00000454360.1:p.Arg560Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1353C>T
  hgvsp: ENST00000566059.1:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1321C>T
  hgvsp: ENSP00000306050.10:p.Arg441Trp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2392C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg515Trp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

16-28995577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995577
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995577
    reference: chr 16
allele count: 4
allele frequency: 3.537256150404131e-5
allele num: 113082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1388G>A
  hgvsp: ENSP00000335494.8:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2393G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1679G>A
  hgvsp: ENSP00000454360.1:p.Arg560Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.496G>A
  hgvsp: ENSP00000455467.1:p.Arg166Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1322G>A
  hgvsp: ENSP00000306050.10:p.Arg441Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1354G>A
  hgvsp: ENSP00000456119.1:p.Gly452Arg
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1544G>A
  hgvsp: ENSP00000309945.11:p.Arg515Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1325G>A
  hgvsp: ENSP00000318228.8:p.Arg442Gln
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26861
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg515Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-28995580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995580
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995580
    reference: chr 16
allele count: 1
allele frequency: 8.819897689186806e-6
allele num: 113380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1682G>A
  hgvsp: ENSP00000454360.1:p.Gly561Asp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.499G>A
  hgvsp: ENSP00000455467.1:p.Gly167Asp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1325G>A
  hgvsp: ENSP00000306050.10:p.Gly442Asp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1328G>A
  hgvsp: ENSP00000318228.8:p.Gly443Asp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1357G>A
  hgvsp: ENSP00000456119.1:p.Ala453Thr
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1547G>A
  hgvsp: ENSP00000309945.11:p.Gly516Asp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1391G>A
  hgvsp: ENSP00000335494.8:p.Gly464Asp
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2396G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly516Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS

16-28995581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995581
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995581
    reference: chr 16
allele count: 1
allele frequency: 8.842514811212309e-6
allele num: 113090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1329C>T
  hgvsp: ENST00000323081.8:c.1329C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1326C>T
  hgvsp: ENST00000352260.7:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1358C>T
  hgvsp: ENSP00000456119.1:p.Ala453Val
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2397C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1548C>T
  hgvsp: ENST00000311008.11:c.1548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.500C>T
  hgvsp: ENST00000568829.1:c.500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1683C>T
  hgvsp: ENST00000565975.1:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1392C>T
  hgvsp: ENST00000334536.8:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala453Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

16-28995582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995582
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995582
    reference: chr 16
allele count: 16
allele frequency: 1.412778582276693e-4
allele num: 113252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2398C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1393C>T
  hgvsp: ENSP00000335494.8:p.Arg465Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1549C>T
  hgvsp: ENSP00000309945.11:p.Arg517Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1327C>T
  hgvsp: ENSP00000306050.10:p.Arg443Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1684C>T
  hgvsp: ENSP00000454360.1:p.Arg562Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1359C>T
  hgvsp: ENST00000566059.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.501C>T
  hgvsp: ENSP00000455467.1:p.Arg168Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1330C>T
  hgvsp: ENSP00000318228.8:p.Arg444Cys
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16208
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7786
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg517Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

16-28995583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995583
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995583
    reference: chr 16
allele count: 495
allele frequency: 4.360849264381993e-3
allele num: 113510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1328G>A
  hgvsp: ENSP00000306050.10:p.Arg443His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1685G>A
  hgvsp: ENSP00000454360.1:p.Arg562His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1550G>A
  hgvsp: ENSP00000309945.11:p.Arg517His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.502G>A
  hgvsp: ENSP00000455467.1:p.Arg168His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1360G>A
  hgvsp: ENSP00000456119.1:p.Ala454Thr
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2399G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1394G>A
  hgvsp: ENSP00000335494.8:p.Arg465His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1331G>A
  hgvsp: ENSP00000318228.8:p.Arg444His
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 26787
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 16254
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.75e1
  variant carriers: 2
hgvs: p.Arg517His
num of homozygotes: 2
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

16-28995584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995584
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995584
    reference: chr 16
allele count: 1
allele frequency: 8.791208791208792e-6
allele num: 113750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1395C>T
  hgvsp: ENST00000334536.8:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2400C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1361C>T
  hgvsp: ENSP00000456119.1:p.Ala454Val
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1329C>T
  hgvsp: ENST00000352260.7:c.1329C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1551C>T
  hgvsp: ENST00000311008.11:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1686C>T
  hgvsp: ENST00000565975.1:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1332C>T
  hgvsp: ENST00000323081.8:c.1332C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.503C>T
  hgvsp: ENST00000568829.1:c.503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala454Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

16-28995589-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995589
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995589
    reference: chr 16
allele count: 1
allele frequency: 8.804832091852009e-6
allele num: 113574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1400C>G
  hgvsp: ENSP00000335494.8:p.Thr467Ser
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1334C>G
  hgvsp: ENSP00000306050.10:p.Thr445Ser
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1366C>G
  hgvsp: ENSP00000456119.1:p.Pro456Ala
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.508C>G
  hgvsp: ENSP00000455467.1:p.Thr170Ser
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1556C>G
  hgvsp: ENSP00000309945.11:p.Thr519Ser
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1337C>G
  hgvsp: ENSP00000318228.8:p.Thr446Ser
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1691C>G
  hgvsp: ENSP00000454360.1:p.Thr564Ser
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2405C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr519Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

16-28995591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995591
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995591
    reference: chr 16
allele count: 1
allele frequency: 8.791517943488123e-6
allele num: 113746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.510C>T
  hgvsp: ENSP00000455467.1:p.Arg171Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1693C>T
  hgvsp: ENSP00000454360.1:p.Arg565Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1558C>T
  hgvsp: ENSP00000309945.11:p.Arg520Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1339C>T
  hgvsp: ENSP00000318228.8:p.Arg447Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1368C>T
  hgvsp: ENST00000566059.1:c.1368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2407C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1336C>T
  hgvsp: ENSP00000306050.10:p.Arg446Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1402C>T
  hgvsp: ENSP00000335494.8:p.Arg468Cys
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg520Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-28995592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995592
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995592
    reference: chr 16
allele count: 1
allele frequency: 8.801112460615022e-6
allele num: 113622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.511G>A
  hgvsp: ENSP00000455467.1:p.Arg171His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1369G>A
  hgvsp: ENSP00000456119.1:p.Ala457Thr
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1559G>A
  hgvsp: ENSP00000309945.11:p.Arg520His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1694G>A
  hgvsp: ENSP00000454360.1:p.Arg565His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1337G>A
  hgvsp: ENSP00000306050.10:p.Arg446His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1403G>A
  hgvsp: ENSP00000335494.8:p.Arg468His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1340G>A
  hgvsp: ENSP00000318228.8:p.Arg447His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2408G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg520His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

16-28995593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995593
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995593
    reference: chr 16
allele count: 10
allele frequency: 8.796312585764048e-5
allele num: 113684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1338C>T
  hgvsp: ENST00000352260.7:c.1338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1695C>T
  hgvsp: ENST00000565975.1:c.1695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2409C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1341C>T
  hgvsp: ENST00000323081.8:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1404C>T
  hgvsp: ENST00000334536.8:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1370C>T
  hgvsp: ENSP00000456119.1:p.Ala457Val
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1560C>T
  hgvsp: ENST00000311008.11:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.512C>T
  hgvsp: ENST00000568829.1:c.512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala457Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

16-28995594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995594
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995594
    reference: chr 16
allele count: 1
allele frequency: 8.794301292762291e-6
allele num: 113710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.513G>A
  hgvsp: ENSP00000455467.1:p.Val172Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1561G>A
  hgvsp: ENSP00000309945.11:p.Val521Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1342G>A
  hgvsp: ENSP00000318228.8:p.Val448Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1371G>A
  hgvsp: ENST00000566059.1:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1405G>A
  hgvsp: ENSP00000335494.8:p.Val469Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2410G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1339G>A
  hgvsp: ENSP00000306050.10:p.Val447Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1696G>A
  hgvsp: ENSP00000454360.1:p.Val566Met
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val521Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-28995599-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995599
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995599
    reference: chr 16
allele count: 1
allele frequency: 8.825346394845998e-6
allele num: 113310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1344C>A
  hgvsp: ENST00000352260.7:c.1344C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1701C>A
  hgvsp: ENST00000565975.1:c.1701C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1566C>A
  hgvsp: ENST00000311008.11:c.1566C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1376C>A
  hgvsp: ENSP00000456119.1:p.Pro459Gln
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1347C>A
  hgvsp: ENST00000323081.8:c.1347C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.518C>A
  hgvsp: ENST00000568829.1:c.518C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1410C>A
  hgvsp: ENST00000334536.8:c.1410C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2415C>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro459Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

16-28995599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995599
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995599
    reference: chr 16
allele count: 4
allele frequency: 3.530138557938399e-5
allele num: 113310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1344C>T
  hgvsp: ENST00000352260.7:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2415C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1410C>T
  hgvsp: ENST00000334536.8:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1566C>T
  hgvsp: ENST00000311008.11:c.1566C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1376C>T
  hgvsp: ENSP00000456119.1:p.Pro459Leu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1347C>T
  hgvsp: ENST00000323081.8:c.1347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1701C>T
  hgvsp: ENST00000565975.1:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.518C>T
  hgvsp: ENST00000568829.1:c.518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15803
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro459Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

16-28995600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995600
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995600
    reference: chr 16
allele count: 2
allele frequency: 1.770444204450897e-5
allele num: 112966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1411G>A
  hgvsp: ENSP00000335494.8:p.Val471Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1348G>A
  hgvsp: ENSP00000318228.8:p.Val450Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1702G>A
  hgvsp: ENSP00000454360.1:p.Val568Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2416G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1377G>A
  hgvsp: ENST00000566059.1:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1567G>A
  hgvsp: ENSP00000309945.11:p.Val523Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.519G>A
  hgvsp: ENSP00000455467.1:p.Val174Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1345G>A
  hgvsp: ENSP00000306050.10:p.Val449Met
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val523Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

16-28995605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995605
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995605
    reference: chr 16
allele count: 2
allele frequency: 1.775978119949562e-5
allele num: 112614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1707C>T
  hgvsp: ENST00000565975.1:c.1707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1350C>T
  hgvsp: ENST00000352260.7:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1416C>T
  hgvsp: ENST00000334536.8:c.1416C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1382C>T
  hgvsp: ENSP00000456119.1:p.Pro461Leu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1572C>T
  hgvsp: ENST00000311008.11:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.524C>T
  hgvsp: ENST00000568829.1:c.524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1353C>T
  hgvsp: ENST00000323081.8:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2421C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro461Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

16-28995606-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995606
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995606
    reference: chr 16
allele count: 1
allele frequency: 8.877840909090909e-6
allele num: 112640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1383A>G
  hgvsp: ENST00000566059.1:c.1383A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.525A>G
  hgvsp: ENSP00000455467.1:p.Ser176Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1708A>G
  hgvsp: ENSP00000454360.1:p.Ser570Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1573A>G
  hgvsp: ENSP00000309945.11:p.Ser525Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2422A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1351A>G
  hgvsp: ENSP00000306050.10:p.Ser451Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1417A>G
  hgvsp: ENSP00000335494.8:p.Ser473Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1354A>G
  hgvsp: ENSP00000318228.8:p.Ser452Gly
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26585
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser525Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-28995614-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995614
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995614
    reference: chr 16
allele count: 2
allele frequency: 1.813927334070997e-5
allele num: 110258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1391C>A
  hgvsp: ENSP00000456119.1:p.Ser464Ter
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1359C>A
  hgvsp: ENST00000352260.7:c.1359C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1362C>A
  hgvsp: ENST00000323081.8:c.1362C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1716C>A
  hgvsp: ENST00000565975.1:c.1716C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1581C>A
  hgvsp: ENST00000311008.11:c.1581C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1425C>A
  hgvsp: ENST00000334536.8:c.1425C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.533C>A
  hgvsp: ENST00000568829.1:c.533C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2430C>A
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser464Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

16-28995615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995615
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995615
    reference: chr 16
allele count: 1
allele frequency: 9.108131740017488e-6
allele num: 109792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1717A>G
  hgvsp: ENSP00000454360.1:p.Ile573Val
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1363A>G
  hgvsp: ENSP00000318228.8:p.Ile455Val
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1360A>G
  hgvsp: ENSP00000306050.10:p.Ile454Val
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2431A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.534A>G
  hgvsp: ENSP00000455467.1:p.Ile179Val
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1582A>G
  hgvsp: ENSP00000309945.11:p.Ile528Val
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1426A>G
  hgvsp: ENSP00000335494.8:p.Ile476Val
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1392A>G
  hgvsp: ENST00000566059.1:c.1392A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile528Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

16-28995617-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995617
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995618
    reference: chr 16
allele count: 1
allele frequency: 9.300249246679811e-6
allele num: 107524
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.1366dupT
  hgvsp: ENSP00000318228.8:p.Ter456Leu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.1429dupT
  hgvsp: ENSP00000335494.8:p.Ter477Leu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2434dupT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.1585dupT
  hgvsp: ENSP00000309945.11:p.Ter529Leu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.1720dupT
  hgvsp: ENSP00000454360.1:p.Ter574Leu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.537dupT
  hgvsp: ENSP00000455467.1:p.Ter180Leu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.1363dupT
  hgvsp: ENSP00000306050.10:p.Ter455Leu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1395dupT
  hgvsp: ENSP00000456119.1:p.Glu466Ter
  variant of: http://identifiers.org/hgnc/30621
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ter529Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

16-28995629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995629
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995629
    reference: chr 16
allele count: 5
allele frequency: 5.096424348676968e-5
allele num: 98108
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*9C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*9C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1406C>T
  hgvsp: ENSP00000456119.1:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2445C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*9C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*9C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Pro469Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-28995630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995630
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995630
    reference: chr 16
allele count: 33
allele frequency: 3.375959079283888e-4
allele num: 97750
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2446G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*10G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1407G>A
  hgvsp: ENST00000566059.1:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*10G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*10G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*10G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*10G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*10G>A
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9643
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18622
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11936
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.75e1
  variant carriers: 2
hgvs: p.Pro469Pro
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

16-28995633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995633
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995633
    reference: chr 16
allele count: 1
allele frequency: 1.078748651564186e-5
allele num: 92700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*13C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*13C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*13C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1410C>T
  hgvsp: ENST00000566059.1:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2449C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*13C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15611
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu470Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

16-28995637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995637
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995637
    reference: chr 16
allele count: 1
allele frequency: 1.102074103462717e-5
allele num: 90738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1414T>C
  hgvsp: ENSP00000456119.1:p.Tyr472His
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*17T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*17T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*17T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*17T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2453T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*17T>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*17T>C
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12623
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr472His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

16-28995650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995650
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995650
    reference: chr 16
allele count: 1
allele frequency: 1.398679646413785e-5
allele num: 71496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2466G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1427G>A
  hgvsp: ENSP00000456119.1:p.Cys476Tyr
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*30G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*30G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*30G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*30G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*30G>A
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys476Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

16-28995651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995651
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995651
    reference: chr 16
allele count: 1
allele frequency: 1.399071016844815e-5
allele num: 71476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*31C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*31C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*31C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1428C>T
  hgvsp: ENST00000566059.1:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*31C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*31C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*31C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2467C>T
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys476Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

16-28995663-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995663
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995663
    reference: chr 16
allele count: 1
allele frequency: 1.672744304305644e-5
allele num: 59782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*43C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*43C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*43C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1440C>G
  hgvsp: ENST00000566059.1:c.1440C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*43C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2479C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*43C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*43C>G
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro480Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

16-28995667-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995667
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995667
    reference: chr 16
allele count: 1
allele frequency: 1.769222603587984e-5
allele num: 56522
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2483G>C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*47G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*47G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*47G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1444G>C
  hgvsp: ENSP00000456119.1:p.Ala482Pro
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*47G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*47G>C
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*47G>C
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16963
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23800
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7993
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala482Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-28995667-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995667
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995667
    reference: chr 16
allele count: 1
allele frequency: 1.769222603587984e-5
allele num: 56522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*47G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*47G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*47G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*47G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1444G>T
  hgvsp: ENSP00000456119.1:p.Ala482Ser
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*47G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*47G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2483G>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7993
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala482Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS

16-28995673-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995673
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995673
    reference: chr 16
allele count: 4
allele frequency: 7.898894154818325e-5
allele num: 50640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1450C>G
  hgvsp: ENSP00000456119.1:p.Pro484Ala
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*53C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*53C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*53C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*53C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*53C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*53C>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2489C>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15968
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Pro484Ala
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

16-28995675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995675
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995675
    reference: chr 16
allele count: 1
allele frequency: 2.074086364956237e-5
allele num: 48214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*55C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2491C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*55C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*55C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*55C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*55C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1452C>T
  hgvsp: ENST00000566059.1:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*55C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15415
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro484Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/16-28995677-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995677
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995677
    reference: chr 16
allele count: 1
allele frequency: 2.124044180118946e-5
allele num: 47080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*57C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1454C>A
  hgvsp: ENSP00000456119.1:p.Thr485Lys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*57C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*57C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*57C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2493C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*57C>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*57C>A
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33533
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr485Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

16-28995677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995677
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995677
    reference: chr 16
allele count: 3
allele frequency: 6.37213254035684e-5
allele num: 47080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*57C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2493C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*57C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*57C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*57C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*57C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1454C>T
  hgvsp: ENSP00000456119.1:p.Thr485Met
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*57C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15053
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr485Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

16-28995678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995678
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995678
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 45026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*58G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1455G>A
  hgvsp: ENST00000566059.1:c.1455G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2494G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*58G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*58G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*58G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*58G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*58G>A
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12849
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr485Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

16-28995680-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995680
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995680
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 44492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*60A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*60A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*60A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*60A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1457A>G
  hgvsp: ENSP00000456119.1:p.Lys486Arg
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*60A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2496A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*60A>G
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12849
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24088
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys486Arg
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-28995683-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995683
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995683
    reference: chr 16
allele count: 14
allele frequency: 3.367651303762148e-4
allele num: 41572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*63G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*63G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*63G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*63G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*63G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*63G>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1460G>T
  hgvsp: ENSP00000456119.1:p.Gly487Val
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2499G>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13246
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 23953
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14734
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly487Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

16-28995687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995687
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995687
    reference: chr 16
allele count: 1
allele frequency: 2.626050420168067e-5
allele num: 38080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*67G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1464G>A
  hgvsp: ENST00000566059.1:c.1464G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*67G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2503G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*67G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*67G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*67G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*67G>A
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16739
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu488Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-28995704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995704
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995704
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 23920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*84C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*84C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*84C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*84C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2520C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1481C>T
  hgvsp: ENSP00000456119.1:p.Pro494Leu
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*84C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*84C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26978
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro494Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP

16-28995708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995708
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995708
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 22028
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2524C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*88C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1485C>T
  hgvsp: ENST00000566059.1:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*88C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*88C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*88C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*88C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*88C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 17080
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28500
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly495Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-28995715-T-TCCAGAGGGACCCTGGGCCGTGTGCCAGCTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995715
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995745
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 19116
alternate allele: TCCAGAGGGACCCTGGGCCGTGTGCCAGCTC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsp: ENSP00000456119.1:p.Gly500_Arg509dup
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31097
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly500_Arg509dup
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

16-28995718-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995718
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995718
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 18228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1495A>G
  hgvsp: ENSP00000456119.1:p.Arg499Gly
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*98A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*98A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*98A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*98A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*98A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*98A>G
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2534A>G
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31832
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31840
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg499Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

16-28995726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995726
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995726
    reference: chr 16
allele count: 1
allele frequency: 6.218905472636816e-5
allele num: 16080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*106C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2542C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1503C>T
  hgvsp: ENST00000566059.1:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*106C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*106C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*106C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33012
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr501Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

16-28995730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995730
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995730
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 15456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*110G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*110G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2546G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*110G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*110G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*110G>A
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1507G>A
  hgvsp: ENSP00000456119.1:p.Gly503Ser
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*110G>A
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33014
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly503Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

16-28995733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28995733
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28995733
    reference: chr 16
allele count: 2
allele frequency: 1.344628210299852e-4
allele num: 14874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000306050
  ensembl transcript: ENST00000352260
  gene symbol: SPNS1
  hgvsc: ENST00000352260.7:c.*113C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000454360
  ensembl transcript: ENST00000565975
  gene symbol: SPNS1
  hgvsc: ENST00000565975.1:c.*113C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000456119
  ensembl transcript: ENST00000566059
  gene symbol: SPNS1
  hgvsc: ENST00000566059.1:c.1510C>T
  hgvsp: ENSP00000456119.1:p.Arg504Cys
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000318228
  ensembl transcript: ENST00000323081
  gene symbol: SPNS1
  hgvsc: ENST00000323081.8:c.*113C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000455467
  ensembl transcript: ENST00000568829
  gene symbol: SPNS1
  hgvsc: ENST00000568829.1:c.*113C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000261067
  ensembl transcript: ENST00000569969
  gene symbol: RP11-264B17.3
  hgvsc: ENST00000569969.1:n.2549C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000309945
  ensembl transcript: ENST00000311008
  gene symbol: SPNS1
  hgvsc: ENST00000311008.11:c.*113C>T
  variant of: http://identifiers.org/hgnc/30621
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000169682
  ensembl protein: ENSP00000335494
  ensembl transcript: ENST00000334536
  gene symbol: SPNS1
  hgvsc: ENST00000334536.8:c.*113C>T
  variant of: http://identifiers.org/hgnc/30621
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg504Cys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1181
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15924
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5995
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12995
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2285
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.90759604746099e-5
allele num: 52422
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.047e-1

FS
type: SiteQuality
SIO_000300: 9.946999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.409e1

DP
type: SiteQuality
SIO_000300: 9.40334e5

MQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

GenotypeQuality
all individuals: 6208
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4413
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6792
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.443834825295986e-4
allele num: 6926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4992
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

VQSLOD
type: SiteQuality
SIO_000300: -1.764e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

FS
type: SiteQuality
SIO_000300: 2.688e0

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

DP
type: SiteQuality
SIO_000300: 9.17424e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

GenotypeQuality
all individuals: 2147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11215
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6907
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4539
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15798
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.92856591838309e-5
allele num: 51852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.286e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.576e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 9.10345e5

QD
type: SiteQuality
SIO_000300: 1.406e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 666
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5689
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5421
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 14169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.931198102016608e-4
allele num: 6744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.244e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.52554e5

GenotypeQuality
all individuals: 5454
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7788
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5872
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13835
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.025275437459495e-5
allele num: 49376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

DP
type: SiteQuality
SIO_000300: 8.40371e5

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.884e1

GenotypeQuality
all individuals: 2267
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14224
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7766
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6520
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1059
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6245
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.017919121801598e-5
allele num: 49556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.457e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

QD
type: SiteQuality
SIO_000300: 1.541e1

DP
type: SiteQuality
SIO_000300: 8.39283e5

MQ
type: SiteQuality
SIO_000300: 5.843e1

GenotypeQuality
all individuals: 7802
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2947
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12779
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5967
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 5.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

DP
type: SiteQuality
SIO_000300: 8.28196e5

GenotypeQuality
all individuals: 857
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7505
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.865248226950355e-5
allele num: 11280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 2.126e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.767e0

QD
type: SiteQuality
SIO_000300: 1.335e1

DP
type: SiteQuality
SIO_000300: 1.404706e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

VQSLOD
type: SiteQuality
SIO_000300: -6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 858
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3294
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637679735350955e-5
allele num: 61062
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.034e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.206e0

DP
type: SiteQuality
SIO_000300: 1.417693e6

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 489
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637250728576574e-5
allele num: 61078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.787000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

VQSLOD
type: SiteQuality
SIO_000300: -7.923e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.429119e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.443e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 422
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61274
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.931198102016608e-4
allele num: 8430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

DP
type: SiteQuality
SIO_000300: 1.448983e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 9.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
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GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 422
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variant carriers: 0

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

GenotypeQuality
all individuals: 421
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variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 40497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7606
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.827683615819209e-5
allele num: 11328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.448983e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 423
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 4603
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
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variant carriers: 1

GenotypeQuality
all individuals: 1418
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variant carriers: 0

GenotypeQuality
all individuals: 455
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variant carriers: 0

GenotypeQuality
all individuals: 2056
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 1049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.631800528703371e-5
allele num: 61282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.449627e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
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variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 366
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GenotypeQuality
all individuals: 118
bin: 2.5e0
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GenotypeQuality
all individuals: 210
bin: 3.75e1
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GenotypeQuality
all individuals: 40509
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.829242450997704e-5
allele num: 11326
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.050199537912203e-4
allele num: 9522
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 1.449627e6

QD
type: SiteQuality
SIO_000300: 1.116e1

GenotypeQuality
all individuals: 1037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 454
bin: 2.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 76

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.76522506619594e-4
allele num: 11330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.119283658458586e-3
allele num: 6254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.109769233280021e-3
allele num: 61274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

FS
type: SiteQuality
SIO_000300: 1.899e0

DP
type: SiteQuality
SIO_000300: 1.451541e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
all individuals: 666
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 1410
bin: 7.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7601
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
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: 9554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.074113856068743e-4
allele num: 9310
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 1.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

DP
type: SiteQuality
SIO_000300: 1.451541e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
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GenotypeQuality
all individuals: 358
bin: 8.25e1
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GenotypeQuality
all individuals: 1410
bin: 7.25e1
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GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 454
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.148227712137487e-4
allele num: 9310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61274
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 1.451541e6

FS
type: SiteQuality
SIO_000300: 1.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.5e0
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GenotypeQuality
all individuals: 7604
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.816787162757891e-5
allele num: 11342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.432e0

VQSLOD
type: SiteQuality
SIO_000300: -1.848e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.188e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.028e0

DP
type: SiteQuality
SIO_000300: 1.460399e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
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GenotypeQuality
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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

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
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GenotypeQuality
all individuals: 232
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 2
allele frequency: 2.13857998289136e-4
allele num: 9352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.625910509885536e-5
allele num: 61504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.461678e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

FS
type: SiteQuality
SIO_000300: 1.1705e1

QD
type: SiteQuality
SIO_000300: 1.137e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.023e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 221
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 213
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variant carriers: 0

GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 117
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1414
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GenotypeQuality
all individuals: 40923
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variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.406839414771726e-4
allele num: 11346
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.46223e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

FS
type: SiteQuality
SIO_000300: 5.083e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.643e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
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GenotypeQuality
all individuals: 41054
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 554
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GenotypeQuality
all individuals: 7602
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GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 112
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variant carriers: 2

GenotypeQuality
all individuals: 110
bin: 4.75e1
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GenotypeQuality
all individuals: 356
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variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.75e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.08215297450425e-4
allele num: 8472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620220349967596e-5
allele num: 61720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.672367717797969e-4
allele num: 11226
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 1.471245e6

QD
type: SiteQuality
SIO_000300: 9.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 5842
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
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variant carriers: 0

GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 108
bin: 4.75e1
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GenotypeQuality
all individuals: 221
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variant carriers: 2

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
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GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 41158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.809020436927414e-5
allele num: 11352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.605136436597111e-4
allele num: 6230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.175e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.331e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.472441e6

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 119
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GenotypeQuality
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GenotypeQuality
all individuals: 538
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GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 220
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.064056182166418e-4
allele num: 9398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11766
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 3.316e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.123e0

VQSLOD
type: SiteQuality
SIO_000300: -1.654e0

DP
type: SiteQuality
SIO_000300: 1.475523e6

QD
type: SiteQuality
SIO_000300: 6.6e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5709
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 7629
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 238
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 353
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GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11992
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.128565346956152e-4
allele num: 9396
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61816
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 4.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

DP
type: SiteQuality
SIO_000300: 1.477314e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 23

GenotypeQuality
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GenotypeQuality
all individuals: 5709
bin: 2.25e1
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GenotypeQuality
all individuals: 1040
bin: 7.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11992
num of homozygotes: 0

Latino
type: Population
allele count: 24
allele frequency: 2.113792496036639e-3
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61816
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.477314e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

GenotypeQuality
all individuals: 41622
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 512
bin: 7.5e0
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: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.75e1
variant carriers: 2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.229869836245599e-5
allele num: 61922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12336
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.532e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.47944e6

FS
type: SiteQuality
SIO_000300: 1.121e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 556
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13396
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.550295857988166e-4
allele num: 8450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

QD
type: SiteQuality
SIO_000300: 9.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.455e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

DP
type: SiteQuality
SIO_000300: 1.482198e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.818342151675486e-5
allele num: 11340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.241e1

VQSLOD
type: SiteQuality
SIO_000300: -1.064e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

FS
type: SiteQuality
SIO_000300: 9.835000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

DP
type: SiteQuality
SIO_000300: 1.491397e6

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 131
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variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 1
allele frequency: 1.213592233009709e-3
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62354
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.044989775051125e-4
allele num: 14670
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

FS
type: SiteQuality
SIO_000300: 3.362e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

DP
type: SiteQuality
SIO_000300: 1.498768e6

GenotypeQuality
all individuals: 42399
bin: 6.25e1
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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GenotypeQuality
all individuals: 524
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7876
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GenotypeQuality
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GenotypeQuality
all individuals: 1493
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variant carriers: 0

GenotypeQuality
all individuals: 396
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variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600819619645258e-5
allele num: 62468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.334e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

VQSLOD
type: SiteQuality
SIO_000300: -3.678e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.499734e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1475
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 2.75e1
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GenotypeQuality
all individuals: 4669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14972
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: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606322485302149e-5
allele num: 62254
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.339e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

FS
type: SiteQuality
SIO_000300: 1.6078e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

DP
type: SiteQuality
SIO_000300: 1.495718e6

GenotypeQuality
all individuals: 1485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 16

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 231
bin: 5.25e1
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GenotypeQuality
all individuals: 160
bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.988360492184902e-4
allele num: 6014
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.086677367576244e-4
allele num: 62300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15082
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.103e1

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

DP
type: SiteQuality
SIO_000300: 1.498052e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 128
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GenotypeQuality
all individuals: 7779
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GenotypeQuality
all individuals: 42069
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variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 4.25e1
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GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
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GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.75e1
variant carriers: 484

European (Non-Finnish)
type: Population
allele count: 395
allele frequency: 6.330534008590294e-3
allele num: 62396
num of homozygotes: 1

Latino
type: Population
allele count: 47
allele frequency: 4.158556007786232e-3
allele num: 11302
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.453000645300065e-4
allele num: 9298
num of homozygotes: 0

South Asian
type: Population
allele count: 34
allele frequency: 2.228923561033172e-3
allele num: 15254
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.18595825426945e-4
allele num: 8432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.331112591605596e-4
allele num: 6004
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.213592233009709e-2
allele num: 824
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.509437e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.103e0

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 1.08e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4497
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GenotypeQuality
all individuals: 387
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GenotypeQuality
all individuals: 1147
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GenotypeQuality
all individuals: 129
bin: 1.25e1
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GenotypeQuality
all individuals: 455
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 7858
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 1494
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GenotypeQuality
all individuals: 360
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GenotypeQuality
all individuals: 116
bin: 8.75e1
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GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62472
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.662786830728301e-4
allele num: 6014
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.499673e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.696e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 411
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GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.462e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.143e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.497044e6

GenotypeQuality
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bin: 8.75e1
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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bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.189060642092747e-4
allele num: 8410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.89e1

FS
type: SiteQuality
SIO_000300: 2.873e0

DP
type: SiteQuality
SIO_000300: 1.49977e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.054e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605858170606372e-5
allele num: 62272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.479e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.928e0

FS
type: SiteQuality
SIO_000300: 1.242e0

DP
type: SiteQuality
SIO_000300: 1.497309e6

VQSLOD
type: SiteQuality
SIO_000300: -3.096e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

QD
type: SiteQuality
SIO_000300: 1.151e1

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
all individuals: 111
bin: 9.75e1
variant carriers: 10

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.815100154083205e-5
allele num: 62304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.256621797655232e-4
allele num: 9212
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.219512195121951e-3
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.329113924050633e-5
allele num: 15800
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.779042874933286e-4
allele num: 11242
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.65e0

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

FS
type: SiteQuality
SIO_000300: 1.976e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.498403e6

GenotypeQuality
all individuals: 614
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
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GenotypeQuality
all individuals: 1536
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 436
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variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.308352258390108e-5
allele num: 15852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62292
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.835e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.064e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.498107e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 100
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 167
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GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612747153501274e-5
allele num: 62006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.492117e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.267e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

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
all individuals: 124
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.093613298337708e-4
allele num: 9144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.838241460503822e-5
allele num: 62006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.492117e6

QD
type: SiteQuality
SIO_000300: 1.267e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 97
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variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
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: 2
allele frequency: 3.235617679415001e-5
allele num: 61812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.487376e6

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.097e0

QD
type: SiteQuality
SIO_000300: 1.225e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 1450
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 184
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GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.40442414041837e-4
allele num: 8318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

FS
type: SiteQuality
SIO_000300: 1.861e0

DP
type: SiteQuality
SIO_000300: 1.478143e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

BaseQRankSum
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QD
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VQSLOD
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: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622217896307832e-5
allele num: 61644
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

South 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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5736
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.53e-1

MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.646e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 8152
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5484
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10954
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 802
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15680
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.309833515374177e-5
allele num: 60426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.898e1

MQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.57e-1

FS
type: SiteQuality
SIO_000300: 1.9758e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.435499e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8686
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60206
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.232437761893024e-4
allele num: 8114
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10912
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 800
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QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

VQSLOD
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BaseQRankSum
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SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

InbreedingCoeff
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SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 1.425466e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8384
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15462
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.695777513990164e-5
allele num: 58970
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.334e0

MQ
type: SiteQuality
SIO_000300: 6.007e1

VQSLOD
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.242e0

FS
type: SiteQuality
SIO_000300: 3.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

DP
type: SiteQuality
SIO_000300: 1.388035e6

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

South Asian
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allele count: 4
allele frequency: 2.728885250375222e-4
allele num: 14658
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7222
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.855976243504083e-5
allele num: 53880
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4608
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7460
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.213644e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 30

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

South Asian
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allele frequency: 1.369112814895947e-4
allele num: 14608
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African
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7190
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Latino
type: Population
allele count: 28
allele frequency: 2.937473772555602e-3
allele num: 9532
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.587424569768308e-5
allele num: 53692
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Other
type: Population
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allele num: 710
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
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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East Asian
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African
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European (Finnish)
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Other
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South Asian
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Latino
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European (Non-Finnish)
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allele num: 50840
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ReadPosRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Finnish)
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African
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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 frequency: 2.010373527401391e-5
allele num: 49742
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BaseQRankSum
type: SiteQuality
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FS
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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QD
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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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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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East Asian
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Other
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European (Non-Finnish)
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allele num: 38512
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African
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South Asian
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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QD
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DP
type: SiteQuality
SIO_000300: 8.17807e5

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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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.596728122565568e-5
allele num: 38510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5032
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3220
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -1.27e-1

FS
type: SiteQuality
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MQ
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ClippingRankSum
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SIO_000300: -1.449e0

VQSLOD
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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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5060
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.512562814070352e-4
allele num: 3980
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31778
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2576
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.153e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

VQSLOD
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QD
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

DP
type: SiteQuality
SIO_000300: 6.99405e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29856
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 2.13857998289136e-4
allele num: 4676
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
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SIO_000300: 6.71783e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

QD
type: SiteQuality
SIO_000300: 1.008e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.34941050375134e-5
allele num: 29856
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3734
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2420
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

DP
type: SiteQuality
SIO_000300: 6.71783e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.008e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.425935973955507e-4
allele num: 3686
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

Latino
type: Population
allele count: 1
allele frequency: 2.487562189054726e-4
allele num: 4020
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.780718336483932e-5
allele num: 26450
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

FS
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 6.25597e5

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

BaseQRankSum
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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3056
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1968
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10654
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.99872040946897e-5
allele num: 25008
num of homozygotes: 0

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

South Asian
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allele frequency: 9.46431951542684e-5
allele num: 10566
num of homozygotes: 0

Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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African
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Other
type: Population
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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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: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24312
num of homozygotes: 0

Other
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East Asian
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African
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Latino
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South Asian
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allele frequency: 2.839295854628052e-4
allele num: 10566
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European (Finnish)
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allele frequency: 0.0e0
allele num: 1906
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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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Latino
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allele num: 3354
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African
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Other
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South Asian
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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VQSLOD
type: SiteQuality
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3226
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22770
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10354
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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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MQ
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MQRankSum
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ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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SIO_000300: -3.01e-2

BaseQRankSum
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SIO_000300: 1.38e0

ClippingRankSum
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SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 5.78492e5

GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

Latino
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allele count: 13
allele frequency: 4.403794037940379e-3
allele num: 2952
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21064
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.225806451612903e-3
allele num: 310
num of homozygotes: 0

FS
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 5.60341e5

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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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
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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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2748
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 19006
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.012965964343598e-4
allele num: 9872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.979e0

InbreedingCoeff
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SIO_000300: -3.67e-2

BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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MQ
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.072e0

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

Other
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allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
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

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

South Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.067e0

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

InbreedingCoeff
type: SiteQuality
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QD
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.24902e5

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1426
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.07943e5

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.85e-2

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.326e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
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bin: 7.75e1
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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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.303e1

DP
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SIO_000300: 3.77245e5

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.41e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-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: 0

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

East 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: 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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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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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bin: 6.25e1
variant carriers: 0

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 count: 1
allele frequency: 1.715854495538778e-4
allele num: 5828
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.13e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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VQSLOD
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ClippingRankSum
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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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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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MQ
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