1-53513606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513606
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513606
    reference: chr 1
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1473G>A
  hgvsp: ENST00000407246.2:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.333G>A
  hgvsp: ENST00000435345.2:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.324G>A
  hgvsp: ENST00000430330.2:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*23G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3187G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.388G>A
  hgvsp: ENST00000478274.2:c.388G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1545G>A
  hgvsp: ENST00000371514.3:c.1545G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*188G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1302G>A
  hgvsp: ENST00000528311.1:c.1302G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1413G>A
  hgvsp: ENST00000371509.4:c.1413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gln515Gln
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: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-53513608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513608
    reference: chr 1
allele count: 5
allele frequency: 4.122555324692458e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.335C>T
  hgvsp: ENSP00000396413.2:p.Ser112Leu
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.390C>T
  hgvsp: ENSP00000437317.1:p.Ser131Leu
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1415C>T
  hgvsp: ENSP00000360564.4:p.Ser472Leu
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1475C>T
  hgvsp: ENSP00000384569.2:p.Ser492Leu
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1547C>T
  hgvsp: ENSP00000360569.3:p.Ser516Leu
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1304C>T
  hgvsp: ENSP00000434132.1:p.Ser435Leu
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.326C>T
  hgvsp: ENSP00000406636.2:p.Ser109Leu
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*190C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*25C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3189C>T
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser516Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-53513639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513639
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513639
    reference: chr 1
allele count: 1
allele frequency: 8.309788931361144e-6
allele num: 120340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+30G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.421G>A
  hgvsp: ENST00000478274.2:c.421G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+30G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+30G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+30G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+30G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+30G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+30G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*56G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+30G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+30G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+30G>A
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ter141Ter
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

1-53513639-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513639
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513639
    reference: chr 1
allele count: 1
allele frequency: 8.309788931361144e-6
allele num: 120340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.421G>C
  hgvsp: ENSP00000437317.1:p.Ter141TyrextTer1
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+30G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*56G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+30G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+30G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+30G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+30G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+30G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+30G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+30G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+30G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+30G>C
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter141TyrextTer1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-53513642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513642
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513642
    reference: chr 1
allele count: 3
allele frequency: 2.498709000349819e-5
allele num: 120062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+33G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*59G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+33G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*3G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+33G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+33G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+33G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+33G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+33G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+33G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+33G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+33G>A
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23850
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

1-53513655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513655
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513655
    reference: chr 1
allele count: 5
allele frequency: 4.220905299768694e-5
allele num: 118458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+46G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+46G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+46G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+46G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+46G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*16G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+46G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+46G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+46G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+46G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+46G>A
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

1-53513662-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513662
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513662
    reference: chr 1
allele count: 5
allele frequency: 4.243329486047933e-5
allele num: 117832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+53C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*79C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+53C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+53C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+53C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+53C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+53C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+53C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+53C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+53C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*23C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+53C>G
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-53513664-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513664
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513664
    reference: chr 1
allele count: 1
allele frequency: 8.494156020657787e-6
allele num: 117728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*81A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+55A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+55A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+55A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+55A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+55A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+55A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*25A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+55A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+55A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+55A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+55A>C
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-53513664-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513664
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513664
    reference: chr 1
allele count: 10
allele frequency: 8.494156020657788e-5
allele num: 117728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+55A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+55A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+55A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+55A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+55A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*81A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+55A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*25A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+55A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+55A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+55A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+55A>G
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18356
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-53513664-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513664
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513664
    reference: chr 1
allele count: 6
allele frequency: 5.096493612394673e-5
allele num: 117728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+55A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*81A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+55A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+55A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+55A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+55A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+55A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+55A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+55A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*25A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+55A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+55A>T
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-53513667-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513667
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513667
    reference: chr 1
allele count: 2
allele frequency: 1.703693607741584e-5
allele num: 117392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+58C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+58C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+58C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*84C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+58C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+58C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+58C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*28C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+58C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+58C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+58C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+58C>A
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16818
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-53513668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513668
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513668
    reference: chr 1
allele count: 2
allele frequency: 1.706251706251706e-5
allele num: 117216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+59C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+59C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+59C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+59C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*29C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+59C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*85C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+59C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+59C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+59C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+59C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+59C>T
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-53513669-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513669
    reference: chr 1
allele count: 3
allele frequency: 2.555932318912195e-5
allele num: 117374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+60A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+60A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*86A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+60A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+60A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+60A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+60A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*30A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+60A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+60A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+60A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+60A>G
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16206
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-53513673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513673
    reference: chr 1
allele count: 1
allele frequency: 8.563403439062821e-6
allele num: 116776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+64C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+64C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+64C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+64C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+64C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+64C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+64C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+64C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*34C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+64C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+64C>T
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

1-53513686-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53513686
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53513686
    reference: chr 1
allele count: 1
allele frequency: 8.751050126015123e-6
allele num: 114272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*103C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.327+77C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1548+77C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.336+77C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000437317
  ensembl transcript: ENST00000478274
  gene symbol: SCP2
  hgvsc: ENST00000478274.2:c.*47C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1476+77C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1416+77C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1305+77C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*191+77C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*26+77C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3190+77C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*26+77C>G
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11028
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-53516240-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516241
    reference: chr 1
allele count: 3
allele frequency: 2.537598754884877e-5
allele num: 118222
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.328-34dupA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1417-34dupA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*192-34dupA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.337-34dupA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*27-34dupA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*27-34dupA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3191-34dupA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2664dupA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1549-34dupA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1477-34dupA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1306-34dupA
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4791
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-53516240-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516239
    reference: chr 1
allele count: 1
allele frequency: 8.458662516282926e-6
allele num: 118222
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1549-34delA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2664delA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.328-34delA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1306-34delA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*27-34delA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3191-34delA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*192-34delA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1477-34delA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*27-34delA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1417-34delA
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.337-34delA
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: CA
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-53516251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516251
    reference: chr 1
allele count: 1
allele frequency: 8.384900471231407e-6
allele num: 119262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*27-30C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*192-30C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1477-30C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*27-30C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2668C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1549-30C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3191-30C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1417-30C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.328-30C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.337-30C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1306-30C>T
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12143
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

1-53516255-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516255
    reference: chr 1
allele count: 1
allele frequency: 8.351428094204109e-6
allele num: 119740
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1549-26T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1477-26T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.337-26T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2672T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.328-26T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1306-26T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3191-26T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*27-26T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*27-26T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*192-26T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1417-26T>C
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

1-53516257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516257
    reference: chr 1
allele count: 3
allele frequency: 2.501167211365304e-5
allele num: 119944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.337-24A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3191-24A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*27-24A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*27-24A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1306-24A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1477-24A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2674A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1549-24A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1417-24A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.328-24A>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*192-24A>G
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

1-53516268-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516268
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516268
    reference: chr 1
allele count: 9
allele frequency: 7.460830639144492e-5
allele num: 120630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1477-13T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2685T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.337-13T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1417-13T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1549-13T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1306-13T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3191-13T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*192-13T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*27-13T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*27-13T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.328-13T>C
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11032
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

1-53516270-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516270
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516270
    reference: chr 1
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*27-11C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1549-11C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2687C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*192-11C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1477-11C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3191-11C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.328-11C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1417-11C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.337-11C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*27-11C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1306-11C>G
  variant of: http://identifiers.org/hgnc/10606
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-53516273-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516273
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516273
    reference: chr 1
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3191-8C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1417-8C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*27-8C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2690C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*27-8C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1477-8C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1549-8C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*192-8C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.337-8C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1306-8C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.328-8C>A
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1549-8C>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-53516277-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516277
    reference: chr 1
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*27-4A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1477-4A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.328-4A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1549-4A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2694A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*192-4A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*27-4A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3191-4A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1306-4A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.337-4A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1417-4A>C
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1549-4A>C
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-53516297-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516297
    reference: chr 1
allele count: 7
allele frequency: 5.784550292532972e-5
allele num: 121012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.353A>C
  hgvsp: ENSP00000396413.2:p.Lys118Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2714A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3207A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1433A>C
  hgvsp: ENSP00000360564.4:p.Lys478Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*208A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1565A>C
  hgvsp: ENSP00000360569.3:p.Lys522Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1493A>C
  hgvsp: ENSP00000384569.2:p.Lys498Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.344A>C
  hgvsp: ENSP00000406636.2:p.Lys115Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*43A>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1322A>C
  hgvsp: ENSP00000434132.1:p.Lys441Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*43A>C
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys522Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

1-53516310-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516310
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516310
    reference: chr 1
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2727T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1335T>C
  hgvsp: ENST00000528311.1:c.1335T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.366T>C
  hgvsp: ENST00000435345.2:c.366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1446T>C
  hgvsp: ENST00000371509.4:c.1446T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*221T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1506T>C
  hgvsp: ENST00000407246.2:c.1506T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*56T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1578T>C
  hgvsp: ENST00000371514.3:c.1578T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.357T>C
  hgvsp: ENST00000430330.2:c.357T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3220T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*56T>C
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr526Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-53516316-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516316
    reference: chr 1
allele count: 2
allele frequency: 1.652155236506022e-5
allele num: 121054
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1584C>G
  hgvsp: ENSP00000360569.3:p.Asn528Lys
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.372C>G
  hgvsp: ENSP00000396413.2:p.Asn124Lys
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3226C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*62C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*227C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1452C>G
  hgvsp: ENSP00000360564.4:p.Asn484Lys
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1341C>G
  hgvsp: ENSP00000434132.1:p.Asn447Lys
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.363C>G
  hgvsp: ENSP00000406636.2:p.Asn121Lys
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1512C>G
  hgvsp: ENSP00000384569.2:p.Asn504Lys
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*62C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2733C>G
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn528Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-53516325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516325
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516325
    reference: chr 1
allele count: 5
allele frequency: 4.130183380142078e-5
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1593C>T
  hgvsp: ENST00000371514.3:c.1593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1521C>T
  hgvsp: ENST00000407246.2:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.381C>T
  hgvsp: ENST00000435345.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1461C>T
  hgvsp: ENST00000371509.4:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1350C>T
  hgvsp: ENST00000528311.1:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*71C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*71C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3235C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2742C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.372C>T
  hgvsp: ENST00000430330.2:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*236C>T
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu531Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-53516326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516326
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516326
    reference: chr 1
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1462G>A
  hgvsp: ENSP00000360564.4:p.Ala488Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.373G>A
  hgvsp: ENSP00000406636.2:p.Ala125Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1522G>A
  hgvsp: ENSP00000384569.2:p.Ala508Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2743G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3236G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1351G>A
  hgvsp: ENSP00000434132.1:p.Ala451Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1594G>A
  hgvsp: ENSP00000360569.3:p.Ala532Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*237G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.382G>A
  hgvsp: ENSP00000396413.2:p.Ala128Thr
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*72G>A
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala532Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-53516356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516356
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516356
    reference: chr 1
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2773C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3266C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.403C>T
  hgvsp: ENSP00000406636.2:p.Pro135Ser
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1381C>T
  hgvsp: ENSP00000434132.1:p.Pro461Ser
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1552C>T
  hgvsp: ENSP00000384569.2:p.Pro518Ser
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*102C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*102C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*267C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1492C>T
  hgvsp: ENSP00000360564.4:p.Pro498Ser
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1624C>T
  hgvsp: ENSP00000360569.3:p.Pro542Ser
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.412C>T
  hgvsp: ENSP00000396413.2:p.Pro138Ser
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro542Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

1-53516359-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516359
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516359
    reference: chr 1
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*270G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2776G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.415G>C
  hgvsp: ENSP00000396413.2:p.Gly139Arg
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1627G>C
  hgvsp: ENSP00000360569.3:p.Gly543Arg
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*105G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1384G>C
  hgvsp: ENSP00000434132.1:p.Gly462Arg
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.406G>C
  hgvsp: ENSP00000406636.2:p.Gly136Arg
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3269G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*105G>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1495G>C
  hgvsp: ENSP00000360564.4:p.Gly499Arg
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1555G>C
  hgvsp: ENSP00000384569.2:p.Gly519Arg
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly543Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-53516361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516361
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516361
    reference: chr 1
allele count: 2
allele frequency: 1.653001851362074e-5
allele num: 120992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1386C>T
  hgvsp: ENST00000528311.1:c.1386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.408C>T
  hgvsp: ENST00000430330.2:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*272C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*107C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1557C>T
  hgvsp: ENST00000407246.2:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1629C>T
  hgvsp: ENST00000371514.3:c.1629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*107C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.417C>T
  hgvsp: ENST00000435345.2:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2778C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3271C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1497C>T
  hgvsp: ENST00000371509.4:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly543Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

1-53516364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516364
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516364
    reference: chr 1
allele count: 5
allele frequency: 4.132777887985188e-5
allele num: 120984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3274C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1500C>T
  hgvsp: ENST00000371509.4:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1389C>T
  hgvsp: ENST00000528311.1:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*275C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2781C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.420C>T
  hgvsp: ENST00000435345.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.411C>T
  hgvsp: ENST00000430330.2:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1560C>T
  hgvsp: ENST00000407246.2:c.1560C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*110C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1632C>T
  hgvsp: ENST00000371514.3:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn544Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-53516373-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516373
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516373
    reference: chr 1
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3283C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.1569C>G
  hgvsp: ENST00000407246.2:c.1569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*284C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.1398C>G
  hgvsp: ENST00000528311.1:c.1398C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*119C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.429C>G
  hgvsp: ENST00000435345.2:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.1641C>G
  hgvsp: ENST00000371514.3:c.1641C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.420C>G
  hgvsp: ENST00000430330.2:c.420C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2790C>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.1509C>G
  hgvsp: ENST00000371509.4:c.1509C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*119C>G
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu547Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-53516383-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516383
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516383
    reference: chr 1
allele count: 2156
allele frequency: 1.783675562982941e-2
allele num: 120874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.*7C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2800C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*294C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.*7C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.*7C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*129C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3293C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.*7C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*129C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.*7C>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.*7C>A
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 15442
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 12072
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 9.75e1
  variant carriers: 1340
genotype depth: GenotypeDepth
  all individuals: 10798
  bin: 3.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 200
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-53516384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516384
    reference: chr 1
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.*8C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*130C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*295C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2801C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.*8C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.*8C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3294C>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*130C>T
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-53516388-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516388
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516388
    reference: chr 1
allele count: 4
allele frequency: 3.312300226892566e-5
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2805T>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3298T>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.*12T>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*299T>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*134T>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.*12T>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.*12T>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*134T>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.*12T>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.*12T>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.*12T>A
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-53516388-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516388
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516388
    reference: chr 1
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*134T>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3298T>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.*12T>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.*12T>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*134T>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.*12T>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.*12T>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.*12T>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*299T>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2805T>G
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.*12T>G
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-53516408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516408
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516408
    reference: chr 1
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.*32G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.*32G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3318G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.*32G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*154G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.*32G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.*32G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*319G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2825G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*154G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.*32G>A
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-53516411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516411
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516411
    reference: chr 1
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*322G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3321G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*157G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*157G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2828G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.*35G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.*35G>A
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.*35G>A
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

1-53516417-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516417
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516417
    reference: chr 1
allele count: 10
allele frequency: 8.316976612661765e-5
allele num: 120236
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.*41T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.*41T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.*41T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3327T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2834T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*328T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.*41T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.*41T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*163T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.*41T>C
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*163T>C
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

1-53516418-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53516418
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53516418
    reference: chr 1
allele count: 1
allele frequency: 8.316284949187499e-6
allele num: 120246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000386214
  ensembl transcript: ENST00000408941
  gene symbol: SCP2
  hgvsc: ENST00000408941.3:c.*164A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000434132
  ensembl transcript: ENST00000528311
  gene symbol: SCP2
  hgvsc: ENST00000528311.1:c.*42A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435194
  ensembl transcript: ENST00000478631
  gene symbol: SCP2
  hgvsc: ENST00000478631.2:c.*3328A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000396413
  ensembl transcript: ENST00000435345
  gene symbol: SCP2
  hgvsc: ENST00000435345.2:c.*42A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000432645
  ensembl transcript: ENST00000484100
  gene symbol: SCP2
  hgvsc: ENST00000484100.1:c.*164A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360564
  ensembl transcript: ENST00000371509
  gene symbol: SCP2
  hgvsc: ENST00000371509.4:c.*42A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000436581
  ensembl transcript: ENST00000533119
  gene symbol: SCP2
  hgvsc: ENST00000533119.1:c.*329A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000435783
  ensembl transcript: ENST00000488965
  gene symbol: SCP2
  hgvsc: ENST00000488965.1:c.*2835A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000360569
  ensembl transcript: ENST00000371514
  gene symbol: SCP2
  hgvsc: ENST00000371514.3:c.*42A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000384569
  ensembl transcript: ENST00000407246
  gene symbol: SCP2
  hgvsc: ENST00000407246.2:c.*42A>T
  variant of: http://identifiers.org/hgnc/10606
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000116171
  ensembl protein: ENSP00000406636
  ensembl transcript: ENST00000430330
  gene symbol: SCP2
  hgvsc: ENST00000430330.2:c.*42A>T
  variant of: http://identifiers.org/hgnc/10606
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14372
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-53527841-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527841
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527841
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 3488
alternate allele: G
canonical: true
consequence: upstream gene
filter: AC_Adj0_Filter
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 694
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 278
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2084
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 36
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/1-53527847-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527847
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 3590
alternate allele: A
canonical: true
consequence: upstream gene
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 34723
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.25e1
  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: 843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2102
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 724
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population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 36
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 146
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-53527867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527867
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527867
    reference: chr 1
allele count: 1
allele frequency: 1.877581674802854e-4
allele num: 5326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-328G>A
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.-25G>A
  variant of: http://identifiers.org/hgnc/23174
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 30397
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 420
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

1-53527893-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527893
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527893
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 10414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-302T>C
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.2T>C
  hgvsp: ENSP00000379212.2:p.Met1?
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.2T>C
  hgvsp: ENSP00000308315.5:p.Met1?
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: start lost
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-53527904-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527904
    reference: chr 1
allele count: 2
allele frequency: 1.648804616652927e-4
allele num: 12130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-291C>A
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.13C>A
  hgvsp: ENST00000395871.2:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.13C>A
  hgvsp: ENST00000312553.5:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg5Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-53527905-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527905
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527905
    reference: chr 1
allele count: 40
allele frequency: 3.253090435914118e-3
allele num: 12296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.14G>C
  hgvsp: ENSP00000379212.2:p.Arg5Pro
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.14G>C
  hgvsp: ENSP00000308315.5:p.Arg5Pro
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-290G>C
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18936
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
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  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 26381
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 478
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 134
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genotype quality: GenotypeQuality
  all individuals: 2340
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 532
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 110
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 3
hgvs: p.Arg5Pro
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-53527907-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527907
    reference: chr 1
allele count: 1
allele frequency: 8.00640512409928e-5
allele num: 12490
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.16G>T
  hgvsp: ENSP00000308315.5:p.Ala6Ser
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.16G>T
  hgvsp: ENSP00000379212.2:p.Ala6Ser
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-288G>T
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18849
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26466
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 131
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 569
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala6Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-53527908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527908
    reference: chr 1
allele count: 1
allele frequency: 7.916402786573781e-5
allele num: 12632
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.17C>T
  hgvsp: ENSP00000308315.5:p.Ala6Val
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.17C>T
  hgvsp: ENSP00000379212.2:p.Ala6Val
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-287C>T
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18780
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26477
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2632
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala6Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-53527910-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527910
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527910
    reference: chr 1
allele count: 3
allele frequency: 2.34815278647464e-4
allele num: 12776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.19C>A
  hgvsp: ENSP00000379212.2:p.Arg7Ser
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-285C>A
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.19C>A
  hgvsp: ENSP00000308315.5:p.Arg7Ser
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26312
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg7Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-53527914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527914
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527914
    reference: chr 1
allele count: 3
allele frequency: 2.257336343115124e-4
allele num: 13290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.23G>A
  hgvsp: ENSP00000308315.5:p.Gly8Glu
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-281G>A
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.23G>A
  hgvsp: ENSP00000379212.2:p.Gly8Glu
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly8Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-53527917-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527917
    reference: chr 1
allele count: 1
allele frequency: 7.32493407559332e-5
allele num: 13652
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.26C>G
  hgvsp: ENSP00000308315.5:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.26C>G
  hgvsp: ENSP00000379212.2:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-278C>G
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala9Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

1-53527922-C-CTGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527922
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527926
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 14006
alternate allele: CTGAG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.32_35dupTGAG
  hgvsp: ENSP00000308315.5:p.Arg12SerfsTer31
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.32_35dupTGAG
  hgvsp: ENSP00000379212.2:p.Arg12SerfsTer31
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-272_-269dupTGAG
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25474
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18777
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg12SerfsTer31
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

1-53527930-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527930
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527930
    reference: chr 1
allele count: 3
allele frequency: 2.179915709925883e-4
allele num: 13762
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.39G>C
  hgvsp: ENST00000312553.5:c.39G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-265G>C
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.39G>C
  hgvsp: ENST00000395871.2:c.39G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: synonymous
filter: PASS
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: 495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19768
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu13Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

1-53527931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527931
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527931
    reference: chr 1
allele count: 1
allele frequency: 7.192174913693901e-5
allele num: 13904
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.40G>A
  hgvsp: ENSP00000308315.5:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-264G>A
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.40G>A
  hgvsp: ENSP00000379212.2:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly14Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

1-53527948-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527948
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527948
    reference: chr 1
allele count: 6267
allele frequency: 3.809726443768997e-1
allele num: 16450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-247T>G
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.57T>G
  hgvsp: ENST00000312553.5:c.57T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.57T>G
  hgvsp: ENST00000395871.2:c.57T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18779
  bin: 2.5e0
  variant carriers: 1494
genotype depth: GenotypeDepth
  all individuals: 19245
  bin: 7.5e0
  variant carriers: 5117
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 2.25e1
  variant carriers: 505
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 1301
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 1.25e1
  variant carriers: 2981
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 6.75e1
  variant carriers: 417
genotype quality: GenotypeQuality
  all individuals: 16934
  bin: 7.5e0
  variant carriers: 615
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.25e1
  variant carriers: 488
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 1.25e1
  variant carriers: 666
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 1.75e1
  variant carriers: 1054
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.75e1
  variant carriers: 221
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 292
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 9.75e1
  variant carriers: 3626
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.75e1
  variant carriers: 421
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 860
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 357
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 2.5e0
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 400
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 6.25e1
  variant carriers: 440
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 2.75e1
  variant carriers: 535
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 9.25e1
  variant carriers: 381
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 265
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 237
hgvs: p.Pro19Pro
num of homozygotes: 1207
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-53527949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527949
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527949
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 12246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.58G>A
  hgvsp: ENSP00000308315.5:p.Val20Met
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-246G>A
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.58G>A
  hgvsp: ENSP00000379212.2:p.Val20Met
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16737
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val20Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

1-53527962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527962
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527962
    reference: chr 1
allele count: 3
allele frequency: 3.610977371208474e-4
allele num: 8308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.71C>T
  hgvsp: ENSP00000308315.5:p.Ser24Leu
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.71C>T
  hgvsp: ENSP00000379212.2:p.Ser24Leu
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-233C>T
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 801
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
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  variant carriers: 3
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser24Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-53527965-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527965
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527965
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 7320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.74C>A
  hgvsp: ENSP00000379212.2:p.Ala25Glu
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.74C>A
  hgvsp: ENSP00000308315.5:p.Ala25Glu
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-230C>A
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11764
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  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 quality: GenotypeQuality
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28070
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala25Glu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/1-53527976-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527976
    reference: chr 1
allele count: 17
allele frequency: 3.161026403867609e-3
allele num: 5378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.85A>C
  hgvsp: ENSP00000379212.2:p.Ser29Arg
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.85A>C
  hgvsp: ENSP00000308315.5:p.Ser29Arg
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-219A>C
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28499
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 531
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 2
hgvs: p.Ser29Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

1-53527978-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527978
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527978
    reference: chr 1
allele count: 1
allele frequency: 1.96078431372549e-4
allele num: 5100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-217C>G
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.87C>G
  hgvsp: ENSP00000308315.5:p.Ser29Arg
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.87C>G
  hgvsp: ENSP00000379212.2:p.Ser29Arg
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26846
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser29Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

1-53527989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527989
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527989
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 2356
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.89+9C>T
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-215+9C>T
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.89+9C>T
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

1-53527990-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527990
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527990
    reference: chr 1
allele count: 1
allele frequency: 4.291845493562232e-4
allele num: 2330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-215+10G>T
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.89+10G>T
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.89+10G>T
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20732
  bin: 2.5e0
  variant carriers: 2
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: 5838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  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: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22050
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

1-53527996-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53527996
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53527996
    reference: chr 1
allele count: 466
allele frequency: 2.574585635359116e-1
allele num: 1810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-215+16A>G
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.89+16A>G
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.89+16A>G
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 7.5e0
  variant carriers: 1268
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.25e1
  variant carriers: 25
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: 26
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 16996
  bin: 2.5e0
  variant carriers: 865
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 16182
  bin: 7.5e0
  variant carriers: 443
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 2.25e1
  variant carriers: 228
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 1.25e1
  variant carriers: 308
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 1.75e1
  variant carriers: 326
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 6.25e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.75e1
  variant carriers: 368
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 6.75e1
  variant carriers: 47
num of homozygotes: 105
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-53528005-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53528005
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53528005
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.89+25G>T
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.89+25G>T
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-215+25G>T
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  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: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  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: 6.25e1
  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: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10745
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

1-53528012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53528012
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53528012
    reference: chr 1
allele count: 2
allele frequency: 4.694835680751174e-3
allele num: 426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.89+32G>A
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-215+32G>A
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.89+32G>A
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.5e0
  variant carriers: 22
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: 0
  bin: 8.75e1
  variant carriers: 0
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: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8077
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-53528030-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53528030
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53528030
    reference: chr 1
allele count: 1
allele frequency: 6.666666666666667e-3
allele num: 150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.89+50C>A
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-215+50C>A
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.89+50C>A
  variant of: http://identifiers.org/hgnc/23174
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  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: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-53532497-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53532497
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53532497
    reference: chr 1
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.90-2976A>G
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.90-2976A>G
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-11A>G
  variant of: http://identifiers.org/hgnc/23174
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

1-53532502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53532502
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53532502
    reference: chr 1
allele count: 2
allele frequency: 1.214624073849144e-4
allele num: 16466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.90-2971T>C
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.90-2971T>C
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.-6T>C
  variant of: http://identifiers.org/hgnc/23174
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

1-53532516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53532516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 53532516
    reference: chr 1
allele count: 4
allele frequency: 2.426301103967002e-4
allele num: 16486
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000308315
  ensembl transcript: ENST00000312553
  gene symbol: PODN
  hgvsc: ENST00000312553.5:c.90-2957C>T
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000379212
  ensembl transcript: ENST00000395871
  gene symbol: PODN
  hgvsc: ENST00000395871.2:c.90-2957C>T
  variant of: http://identifiers.org/hgnc/23174
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174348
  ensembl protein: ENSP00000360555
  ensembl transcript: ENST00000371500
  gene symbol: PODN
  hgvsc: ENST00000371500.3:c.9C>T
  hgvsp: ENST00000371500.3:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23174
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly3Gly
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 963
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35921
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9302
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2121
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.283e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.994e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

FS
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 1.993552e6

GenotypeDepth
all individuals: 1296
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 713
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 356
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 551
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 209
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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

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

European (Non-Finnish)
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allele frequency: 5.999160117583539e-5
allele num: 66676
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele num: 66050
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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Other
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BaseQRankSum
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MQ
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MQRankSum
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DP
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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SIO_000300: 3.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66050
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65836
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African
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East Asian
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Other
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Latino
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 8.857395925597875e-5
allele num: 11290
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 7.751937984496124e-5
allele num: 64500
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

African
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European (Finnish)
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 10

East Asian
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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64448
num of homozygotes: 0

African
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allele frequency: 8.891523414344991e-4
allele num: 10122
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
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BaseQRankSum
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SIO_000300: 3.43e0

ReadPosRankSum
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SIO_000300: 6.45e-1

MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 3.6e-3

DP
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FS
type: SiteQuality
SIO_000300: 8.57e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.758192651439921e-5
allele num: 64448
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8356
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 frequency: 9.879470460383324e-5
allele num: 10122
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FS
type: SiteQuality
SIO_000300: 8.57e-1

BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
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allele num: 64238
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
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SIO_000300: 1.773049e6

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 2
allele frequency: 1.981375074301565e-4
allele num: 10094
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64134
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.023e0

DP
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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SIO_000300: 2.943e1

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.114003674524336e-5
allele num: 64226
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.933357155619081e-5
allele num: 11194
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

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

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 frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63842
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Finnish)
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East Asian
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QD
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

Other
type: Population
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East Asian
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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

European (Finnish)
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South Asian
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Latino
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allele num: 10906
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QD
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11608
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.425418384671356e-4
allele num: 8246
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544878727019929e-5
allele num: 64730
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 6.009e1

QD
type: SiteQuality
SIO_000300: 1.036e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

FS
type: SiteQuality
SIO_000300: 1.957e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 2.020277e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

GenotypeQuality
all individuals: 660
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 4791
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544878727019929e-5
allele num: 64730
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.036e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

DP
type: SiteQuality
SIO_000300: 2.020277e6

FS
type: SiteQuality
SIO_000300: 1.957e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQ
type: SiteQuality
SIO_000300: 6.009e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

GenotypeQuality
all individuals: 17941
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528584530724549e-5
allele num: 65420
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 1.567e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

DP
type: SiteQuality
SIO_000300: 2.061522e6

VQSLOD
type: SiteQuality
SIO_000300: -6.167e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.291e0

GenotypeQuality
all individuals: 15001
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variant carriers: 0

GenotypeQuality
all individuals: 291
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5227
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variant carriers: 0

GenotypeQuality
all individuals: 3366
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.071592e6

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
all individuals: 4667
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 78
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GenotypeQuality
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GenotypeQuality
all individuals: 170
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 235
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 17991
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15231
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.542749173358526e-4
allele num: 8468
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65878
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 2.075138e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.725e1

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.158e0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2384
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4701
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.20616349546181e-4
allele num: 66326
num of homozygotes: 1

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.085646e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.586e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.92e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 15760
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

FS
type: SiteQuality
SIO_000300: 1.751e0

VQSLOD
type: SiteQuality
SIO_000300: -1.695e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

DP
type: SiteQuality
SIO_000300: 2.086817e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.19e-1

GenotypeDepth
all individuals: 1166
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3665
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.584e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.08789e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.116e-1

FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -3.769e0

QD
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GenotypeDepth
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variant carriers: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

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

VQSLOD
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -3.38e-1

QD
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MQ
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.05225181889243e-4
allele num: 66524
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -1.01e-1

BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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FS
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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SIO_000300: -1.4e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10332
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele num: 16476
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Latino
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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
allele num: 6612
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.091772e6

FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
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SIO_000300: -3.17e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

Other
type: Population
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num of homozygotes: 0

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

European (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 count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
num of homozygotes: 0

South Asian
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.92e-1

VQSLOD
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FS
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SIO_000300: 1.921e0

InbreedingCoeff
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MQRankSum
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DP
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MQ
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ClippingRankSum
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GenotypeDepth
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variant carriers: 4

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.51450299077219e-5
allele num: 66538
num of homozygotes: 0

South Asian
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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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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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DP
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SIO_000300: 2.092714e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

African
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East Asian
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Other
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Latino
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South Asian
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European (Non-Finnish)
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
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allele num: 66506
num of homozygotes: 0

African
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Other
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East Asian
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European (Finnish)
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Latino
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South Asian
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QD
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.802e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.091444e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007518796992481e-5
allele num: 66500
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.31e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 5.61e0

BaseQRankSum
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SIO_000300: -3.677e0

ReadPosRankSum
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SIO_000300: -3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 2.091265e6

QD
type: SiteQuality
SIO_000300: 1.05e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2391
bin: 8.75e1
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GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511549566891241e-5
allele num: 66496
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.372e0

DP
type: SiteQuality
SIO_000300: 2.091402e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

QD
type: SiteQuality
SIO_000300: 1.131e1

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeDepth
all individuals: 291
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5307
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 2.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
SIO_000300: 2.090209e6

FS
type: SiteQuality
SIO_000300: 2.937e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 11
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1941

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 8.75e1
variant carriers: 2

Other
type: Population
allele count: 6
allele frequency: 6.666666666666667e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 8.429672447013487e-4
allele num: 66432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 110
allele frequency: 9.532062391681109e-3
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 1978
allele frequency: 1.920015530964861e-1
allele num: 10302
num of homozygotes: 200

South Asian
type: Population
allele count: 6
allele frequency: 3.642987249544627e-4
allele num: 16470
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 2.235553e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.872e0

FS
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.485e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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BaseQRankSum
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SIO_000300: -2.506e0

VQSLOD
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SIO_000300: -8.604000000000001e-1

MQ
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SIO_000300: 5.971e1

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

DP
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FS
type: SiteQuality
SIO_000300: 3.397e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
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SIO_000300: -2.561e0

QD
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SIO_000300: 1.174e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.905487209529389e-4
allele num: 10242
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

DP
type: SiteQuality
SIO_000300: 2.113782e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

MQRankSum
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FS
type: SiteQuality
SIO_000300: 6.39e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
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SIO_000300: 2.28e0

ClippingRankSum
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SIO_000300: -7.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

QD
type: SiteQuality
SIO_000300: 1.596e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 553
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GenotypeQuality
all individuals: 3669
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18613
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 9.763718023823472e-5
allele num: 10242
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

ReadPosRankSum
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MQ
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SIO_000300: 5.937e1

FS
type: SiteQuality
SIO_000300: 6.39e-1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

InbreedingCoeff
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SIO_000300: 6.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

DP
type: SiteQuality
SIO_000300: 2.113782e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507613447911955e-5
allele num: 66330
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -5.0e-4

VQSLOD
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MQ
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DP
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MQRankSum
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QD
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: 1.47e0

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

African
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allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66304
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Latino
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allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 3.066e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.33e-1

DP
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SIO_000300: 2.102235e6

ClippingRankSum
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SIO_000300: 3.45e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -1.734e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
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European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.062896501721951e-5
allele num: 66204
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.480682213713888e-4
allele num: 11492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.636e1

DP
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SIO_000300: 2.097356e6

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9998
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.477e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
type: SiteQuality
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
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MQ
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VQSLOD
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DP
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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European (Finnish)
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East Asian
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South Asian
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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European (Non-Finnish)
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allele num: 2824
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East Asian
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African
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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QD
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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GenotypeQuality
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Latino
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African
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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FS
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VQSLOD
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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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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Latino
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European (Non-Finnish)
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South Asian
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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FS
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QD
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BaseQRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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Latino
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European (Finnish)
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African
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East Asian
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Other
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South Asian
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VQSLOD
type: SiteQuality
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FS
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MQ
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ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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DP
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

African
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allele frequency: 4.868549172346641e-4
allele num: 2054
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 540
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South Asian
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allele frequency: 0.0e0
allele num: 1000
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Other
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allele frequency: 0.0e0
allele num: 68
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QD
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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MQ
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

East Asian
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allele frequency: 0.0e0
allele num: 1780
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Latino
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allele frequency: 0.0e0
allele num: 554
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Other
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.284490145672665e-4
allele num: 7002
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 2066
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InbreedingCoeff
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SIO_000300: -4.16e-2

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.777e1

BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 2.765e0

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 580
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South Asian
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allele frequency: 0.0e0
allele num: 1046
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European (Non-Finnish)
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allele frequency: 4.142502071251035e-4
allele num: 7242
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 72
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1890
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European (Finnish)
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allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.73e-1

QD
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DP
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SIO_000300: 3.5908e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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allele frequency: 5.170630816959669e-4
allele num: 1934
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 7490
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 2188
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 314
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Other
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allele frequency: 0.0e0
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

MQ
type: SiteQuality
SIO_000300: 5.783e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

FS
type: SiteQuality
SIO_000300: 6.983e0

DP
type: SiteQuality
SIO_000300: 3.62125e5

VQSLOD
type: SiteQuality
SIO_000300: -1.022e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 80
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 2262
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East Asian
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allele frequency: 0.0e0
allele num: 1970
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 3.61465e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2254
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 590
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 2.737226277372263e-3
allele num: 1096
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East Asian
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allele frequency: 0.0e0
allele num: 1930
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

VQSLOD
type: SiteQuality
SIO_000300: -3.115e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 9.84e0

FS
type: SiteQuality
SIO_000300: 6.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

DP
type: SiteQuality
SIO_000300: 3.47399e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.317e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.313025210084034e-4
allele num: 7616
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 82
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1102
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1934
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2268
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 7.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.787e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.46e-2

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.47752e5

GenotypeQuality
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bin: 8.25e1
variant carriers: 264

East Asian
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allele count: 1046
allele frequency: 4.508620689655172e-1
allele num: 2320
num of homozygotes: 176

European (Finnish)
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allele count: 67
allele frequency: 1.95906432748538e-1
allele num: 342
num of homozygotes: 2

Latino
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allele count: 524
allele frequency: 5.057915057915058e-1
allele num: 1036
num of homozygotes: 84

Other
type: Population
allele count: 30
allele frequency: 3.125e-1
allele num: 96
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African
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allele count: 2170
allele frequency: 7.603363700070077e-1
allele num: 2854
num of homozygotes: 798

South Asian
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allele count: 475
allele frequency: 3.462099125364432e-1
allele num: 1372
num of homozygotes: 57

European (Non-Finnish)
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allele count: 1955
allele frequency: 2.319098457888494e-1
allele num: 8430
num of homozygotes: 88

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.29216e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.944e-1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
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African
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East Asian
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DP
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MQ
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InbreedingCoeff
type: SiteQuality
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FS
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VQSLOD
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QD
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GenotypeQuality
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bin: 8.75e1
variant carriers: 1

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

Other
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African
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Latino
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allele frequency: 5.847953216374269e-3
allele num: 342
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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: 2.232142857142857e-4
allele num: 4480
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South Asian
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FS
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SIO_000300: 1.357e0

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

African
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num of homozygotes: 0

Latino
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East Asian
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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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European (Finnish)
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allele frequency: 0.0e0
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Other
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VQSLOD
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QD
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ReadPosRankSum
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FS
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 1.789473684210526e-2
allele num: 950
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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DP
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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allele num: 2632
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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VQSLOD
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GenotypeQuality
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variant carriers: 0

East Asian
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.59e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

DP
type: SiteQuality
SIO_000300: 1.12474e5

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.496503496503497e-3
allele num: 286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.328e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.12126e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.64e-2

QD
type: SiteQuality
SIO_000300: 1.068e1

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 67

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

East Asian
type: Population
allele count: 64
allele frequency: 2.990654205607476e-1
allele num: 214
num of homozygotes: 9

African
type: Population
allele count: 253
allele frequency: 7.354651162790697e-1
allele num: 344
num of homozygotes: 92

European (Non-Finnish)
type: Population
allele count: 82
allele frequency: 9.382151029748284e-2
allele num: 874
num of homozygotes: 1

Latino
type: Population
allele count: 23
allele frequency: 3.382352941176471e-1
allele num: 68
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

South Asian
type: Population
allele count: 44
allele frequency: 1.605839416058394e-1
allele num: 274
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.624e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.906e0

DP
type: SiteQuality
SIO_000300: 9.4175e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.077e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 1
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.182e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.716e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.5024e4

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.10204081632653e-3
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.173913043478261e-2
allele num: 46
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.5061e4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.79e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.513e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 8.333333333333333e-2
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.3963e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.332e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
all individuals: 424
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.883948756593821e-4
allele num: 5308
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

DP
type: SiteQuality
SIO_000300: 2.81074e5

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.617801047120419e-4
allele num: 7640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 2.81432e5

QD
type: SiteQuality
SIO_000300: 1.083e1