4-48548107-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548107
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548107
    reference: chr 4
allele count: 93
allele frequency: 8.458851779087536e-4
allele num: 109944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5256C>G
  hgvsp: ENST00000503238.1:c.5256C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.670C>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2557C>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5256C>G
  hgvsp: ENST00000358350.4:c.5256C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2557C>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5256C>G
  hgvsp: ENST00000537810.1:c.5256C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1864C>G
  hgvsp: ENST00000514617.1:c.1864C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38881
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1752Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

4-48548129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548129
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548129
    reference: chr 4
allele count: 2
allele frequency: 1.737589268648677e-5
allele num: 115102
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5234A>G
  hgvsp: ENSP00000351113.4:p.Glu1745Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5234A>G
  hgvsp: ENSP00000441114.1:p.Glu1745Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.648A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5234A>G
  hgvsp: ENSP00000426064.1:p.Glu1745Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1842A>G
  hgvsp: ENSP00000425344.1:p.Glu615Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2579A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2579A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu1745Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-48548145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548145
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548145
    reference: chr 4
allele count: 1
allele frequency: 8.551832657738554e-6
allele num: 116934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.632G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5218G>A
  hgvsp: ENSP00000351113.4:p.Val1740Ile
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2595G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5218G>A
  hgvsp: ENSP00000426064.1:p.Val1740Ile
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5218G>A
  hgvsp: ENSP00000441114.1:p.Val1740Ile
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1826G>A
  hgvsp: ENSP00000425344.1:p.Val610Ile
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2595G>A
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val1740Ile
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

4-48548150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548150
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548150
    reference: chr 4
allele count: 10
allele frequency: 8.526893823118114e-5
allele num: 117276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1821A>G
  hgvsp: ENSP00000425344.1:p.Asn608Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.627A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2600A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5213A>G
  hgvsp: ENSP00000351113.4:p.Asn1738Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5213A>G
  hgvsp: ENSP00000441114.1:p.Asn1738Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2600A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5213A>G
  hgvsp: ENSP00000426064.1:p.Asn1738Ser
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11260
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn1738Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

4-48548157-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548157
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548157
    reference: chr 4
allele count: 2
allele frequency: 1.699697453853214e-5
allele num: 117668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2607A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1814A>G
  hgvsp: ENSP00000425344.1:p.Ile606Val
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2607A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5206A>G
  hgvsp: ENSP00000351113.4:p.Ile1736Val
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5206A>G
  hgvsp: ENSP00000441114.1:p.Ile1736Val
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5206A>G
  hgvsp: ENSP00000426064.1:p.Ile1736Val
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.620A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile1736Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

4-48548162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548162
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548162
    reference: chr 4
allele count: 1
allele frequency: 8.483779014524229e-6
allele num: 117872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2612C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5201C>T
  hgvsp: ENSP00000351113.4:p.Thr1734Ile
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.615C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5201C>T
  hgvsp: ENSP00000426064.1:p.Thr1734Ile
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2612C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1809C>T
  hgvsp: ENSP00000425344.1:p.Thr604Ile
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5201C>T
  hgvsp: ENSP00000441114.1:p.Thr1734Ile
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1734Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

4-48548167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548167
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548167
    reference: chr 4
allele count: 1
allele frequency: 8.463673911571535e-6
allele num: 118152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5196G>A
  hgvsp: ENST00000503238.1:c.5196G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2617G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5196G>A
  hgvsp: ENST00000537810.1:c.5196G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.610G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1804G>A
  hgvsp: ENST00000514617.1:c.1804G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2617G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5196G>A
  hgvsp: ENST00000358350.4:c.5196G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1732Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

4-48548170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548170
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548170
    reference: chr 4
allele count: 1
allele frequency: 8.452799567216662e-6
allele num: 118304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1801T>C
  hgvsp: ENST00000514617.1:c.1801T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.607T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5193T>C
  hgvsp: ENST00000537810.1:c.5193T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2620T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5193T>C
  hgvsp: ENST00000503238.1:c.5193T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2620T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5193T>C
  hgvsp: ENST00000358350.4:c.5193T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His1731His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

4-48548178-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548178
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548178
    reference: chr 4
allele count: 3
allele frequency: 2.52993759487266e-5
allele num: 118580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2628A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2628A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5185A>C
  hgvsp: ENSP00000351113.4:p.Ile1729Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5185A>C
  hgvsp: ENSP00000426064.1:p.Ile1729Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.599A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1793A>C
  hgvsp: ENSP00000425344.1:p.Ile599Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5185A>C
  hgvsp: ENSP00000441114.1:p.Ile1729Leu
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile1729Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/4-48548181-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548181
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548181
    reference: chr 4
allele count: 3
allele frequency: 2.528274536904381e-5
allele num: 118658
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5182G>T
  hgvsp: ENSP00000351113.4:p.Ala1728Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5182G>T
  hgvsp: ENSP00000426064.1:p.Ala1728Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5182G>T
  hgvsp: ENSP00000441114.1:p.Ala1728Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1790G>T
  hgvsp: ENSP00000425344.1:p.Ala598Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2631G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2631G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.596G>T
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12664
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1728Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

4-48548186-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548186
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548186
    reference: chr 4
allele count: 1
allele frequency: 8.413825598223e-6
allele num: 118852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5177G>C
  hgvsp: ENSP00000441114.1:p.Ser1726Thr
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5177G>C
  hgvsp: ENSP00000426064.1:p.Ser1726Thr
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1785G>C
  hgvsp: ENSP00000425344.1:p.Ser596Thr
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2636G>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2636G>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5177G>C
  hgvsp: ENSP00000351113.4:p.Ser1726Thr
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.591G>C
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39500
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1726Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

4-48548196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548196
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548196
    reference: chr 4
allele count: 1
allele frequency: 8.397574780403419e-6
allele num: 119082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1775G>A
  hgvsp: ENSP00000425344.1:p.Gly593Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.581G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5167G>A
  hgvsp: ENSP00000426064.1:p.Gly1723Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2646G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5167G>A
  hgvsp: ENSP00000441114.1:p.Gly1723Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5167G>A
  hgvsp: ENSP00000351113.4:p.Gly1723Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2646G>A
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39574
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly1723Arg
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/4-48548214-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548214
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548214
    reference: chr 4
allele count: 1
allele frequency: 8.384197464618687e-6
allele num: 119272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5149T>G
  hgvsp: ENSP00000426064.1:p.Ser1717Ala
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2664T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5149T>G
  hgvsp: ENSP00000441114.1:p.Ser1717Ala
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.563T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2664T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1757T>G
  hgvsp: ENSP00000425344.1:p.Ser587Ala
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5149T>G
  hgvsp: ENSP00000351113.4:p.Ser1717Ala
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1717Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

4-48548217-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548217
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548217
    reference: chr 4
allele count: 1
allele frequency: 8.386025527061704e-6
allele num: 119246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.560A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2667A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5146A>G
  hgvsp: ENSP00000441114.1:p.Thr1716Ala
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2667A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5146A>G
  hgvsp: ENSP00000426064.1:p.Thr1716Ala
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1754A>G
  hgvsp: ENSP00000425344.1:p.Thr586Ala
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5146A>G
  hgvsp: ENSP00000351113.4:p.Thr1716Ala
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr1716Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-48548226-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548226
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548226
    reference: chr 4
allele count: 1
allele frequency: 8.390810384466932e-6
allele num: 119178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1745T>C
  hgvsp: ENSP00000425344.1:p.Ser583Pro
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5137T>C
  hgvsp: ENSP00000441114.1:p.Ser1713Pro
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.551T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2676T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5137T>C
  hgvsp: ENSP00000351113.4:p.Ser1713Pro
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5137T>C
  hgvsp: ENSP00000426064.1:p.Ser1713Pro
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2676T>C
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser1713Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

4-48548228-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548228
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548228
    reference: chr 4
allele count: 1
allele frequency: 8.392500461587526e-6
allele num: 119154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5135G>C
  hgvsp: ENSP00000426064.1:p.Ser1712Thr
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1743G>C
  hgvsp: ENSP00000425344.1:p.Ser582Thr
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2678G>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5135G>C
  hgvsp: ENSP00000441114.1:p.Ser1712Thr
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5135G>C
  hgvsp: ENSP00000351113.4:p.Ser1712Thr
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2678G>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.549G>C
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1712Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

4-48548251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548251
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548251
    reference: chr 4
allele count: 2
allele frequency: 1.689902830587241e-5
allele num: 118350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.526C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1720C>T
  hgvsp: ENST00000514617.1:c.1720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5112C>T
  hgvsp: ENST00000537810.1:c.5112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2701C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2701C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5112C>T
  hgvsp: ENST00000503238.1:c.5112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5112C>T
  hgvsp: ENST00000358350.4:c.5112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13909
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1704Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

4-48548254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548254
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548254
    reference: chr 4
allele count: 1
allele frequency: 8.469551960701279e-6
allele num: 118070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5109C>T
  hgvsp: ENST00000503238.1:c.5109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5109C>T
  hgvsp: ENST00000358350.4:c.5109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.523C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2704C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5109C>T
  hgvsp: ENST00000537810.1:c.5109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2704C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1717C>T
  hgvsp: ENST00000514617.1:c.1717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1703Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

4-48548278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548278
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548278
    reference: chr 4
allele count: 48
allele frequency: 4.196904782722742e-4
allele num: 114370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2728C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1693C>T
  hgvsp: ENST00000514617.1:c.1693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.499C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5085C>T
  hgvsp: ENST00000503238.1:c.5085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5085C>T
  hgvsp: ENST00000537810.1:c.5085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5085C>T
  hgvsp: ENST00000358350.4:c.5085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2728C>T
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35165
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12360
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn1695Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

4-48548288-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548288
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548288
    reference: chr 4
allele count: 6
allele frequency: 5.341119498646916e-5
allele num: 112336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075C>G
  hgvsp: ENSP00000426064.1:p.Ala1692Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075C>G
  hgvsp: ENSP00000351113.4:p.Ala1692Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738C>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075C>G
  hgvsp: ENSP00000441114.1:p.Ala1692Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-3C>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.489C>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738C>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32780
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala1692Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/4-48548304-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548304
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548304
    reference: chr 4
allele count: 1
allele frequency: 9.461633077869239e-6
allele num: 105690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.473G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-19G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-16G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-16G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-16G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-16G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-16G>T
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

4-48548304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548304
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548304
    reference: chr 4
allele count: 1
allele frequency: 9.461633077869239e-6
allele num: 105690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-16G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-16G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.473G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-16G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-16G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-19G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-16G>A
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22322
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

4-48548305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548305
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548305
    reference: chr 4
allele count: 15
allele frequency: 1.425584489640753e-4
allele num: 105220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-20C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-17C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-17C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-17C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-17C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.472C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-17C>T
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15656
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21606
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

4-48548308-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548308
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548308
    reference: chr 4
allele count: 1
allele frequency: 9.619084263178145e-6
allele num: 103960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-20T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-20T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.469T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-20T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-23T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-20T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-20T>C
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

4-48548309-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548309
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548309
    reference: chr 4
allele count: 2
allele frequency: 1.9250760405036e-5
allele num: 103892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.468A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-21A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-24A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-21A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-21A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-21A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-21A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18707
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/4-48548316-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548316
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548316
    reference: chr 4
allele count: 2
allele frequency: 1.980707905005249e-5
allele num: 100974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-31G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-28G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-28G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.461G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-28G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-28G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-28G>T
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/4-48548318-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548318
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548318
    reference: chr 4
allele count: 1
allele frequency: 1.00182331843956e-5
allele num: 99818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-30T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.459T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-33T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-30T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-30T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-30T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-30T>G
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

4-48548320-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548320
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548320
    reference: chr 4
allele count: 1
allele frequency: 1.016900892838984e-5
allele num: 98338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-32T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-32T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-35T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-32T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-32T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.457T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-32T>A
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/4-48548322-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548322
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548323
    reference: chr 4
allele count: 1
allele frequency: 1.019929420884075e-5
allele num: 98046
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-35dupT
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.454dupT
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-38dupT
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-35dupT
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-35dupT
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-35dupT
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-35dupT
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8706
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-48548324-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548324
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548324
    reference: chr 4
allele count: 1
allele frequency: 1.035646968661323e-5
allele num: 96558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-36A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-36A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.453A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-39A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-36A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-36A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-36A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/4-48548331-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48548331
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48548331
    reference: chr 4
allele count: 1
allele frequency: 1.11158044507681e-5
allele num: 89962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5075-43T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5075-43T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1686-46T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2738-43T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000513401
  gene symbol: FRYL
  hgvsc: ENST00000513401.1:n.446T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2738-43T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5075-43T>G
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

4-48549558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549558
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549558
    reference: chr 4
allele count: 4
allele frequency: 3.970065704587411e-5
allele num: 100754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2739+43T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.672T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1685+43T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5074+43T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2739+43T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5074+43T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5074+43T>C
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/4-48549559-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549559
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549559
    reference: chr 4
allele count: 3
allele frequency: 2.975423005970682e-5
allele num: 100826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1685+42T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5074+42T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2739+42T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.671T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5074+42T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5074+42T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2739+42T>G
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17123
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

4-48549572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549572
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549572
    reference: chr 4
allele count: 4
allele frequency: 3.866153756934913e-5
allele num: 103462
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5074+29G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5074+29G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5074+29G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2739+29G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.658G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1685+29G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2739+29G>A
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29953
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

4-48549580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549580
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549580
    reference: chr 4
allele count: 7
allele frequency: 6.485805351715958e-5
allele num: 107928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.650A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1685+21A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2739+21A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5074+21A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5074+21A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5074+21A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2739+21A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36611
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

4-48549583-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549583
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549583
    reference: chr 4
allele count: 1
allele frequency: 9.127752017233197e-6
allele num: 109556
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5074+18A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5074+18A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1685+18A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2739+18A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2739+18A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.647A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5074+18A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

4-48549607-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549607
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549607
    reference: chr 4
allele count: 434
allele frequency: 3.679026160080023e-3
allele num: 117966
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5068T>C
  hgvsp: ENSP00000351113.4:p.Phe1690Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2745T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5068T>C
  hgvsp: ENSP00000441114.1:p.Phe1690Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1679T>C
  hgvsp: ENSP00000425344.1:p.Phe561Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5068T>C
  hgvsp: ENSP00000426064.1:p.Phe1690Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2745T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.623T>C
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42745
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 10387
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 9.75e1
  variant carriers: 421
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe1690Leu
num of homozygotes: 10
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

4-48549609-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549609
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549609
    reference: chr 4
allele count: 3
allele frequency: 2.53716953366824e-5
allele num: 118242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1677A>G
  hgvsp: ENSP00000425344.1:p.Asn560Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5066A>G
  hgvsp: ENSP00000351113.4:p.Asn1689Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2747A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5066A>G
  hgvsp: ENSP00000426064.1:p.Asn1689Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5066A>G
  hgvsp: ENSP00000441114.1:p.Asn1689Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.621A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2747A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn1689Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/4-48549627-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549627
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549627
    reference: chr 4
allele count: 10
allele frequency: 8.343763037129746e-5
allele num: 119850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1659T>G
  hgvsp: ENSP00000425344.1:p.Val554Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2765T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.603T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5048T>G
  hgvsp: ENSP00000351113.4:p.Val1683Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5048T>G
  hgvsp: ENSP00000426064.1:p.Val1683Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2765T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5048T>G
  hgvsp: ENSP00000441114.1:p.Val1683Gly
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1683Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

4-48549637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549637
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549637
    reference: chr 4
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2775G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5038G>A
  hgvsp: ENSP00000426064.1:p.Val1680Ile
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.593G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5038G>A
  hgvsp: ENSP00000351113.4:p.Val1680Ile
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2775G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1649G>A
  hgvsp: ENSP00000425344.1:p.Val551Ile
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5038G>A
  hgvsp: ENSP00000441114.1:p.Val1680Ile
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1680Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

4-48549640-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549640
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549640
    reference: chr 4
allele count: 1
allele frequency: 8.321821480285606e-6
allele num: 120166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5035A>C
  hgvsp: ENSP00000441114.1:p.Thr1679Pro
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.590A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5035A>C
  hgvsp: ENSP00000351113.4:p.Thr1679Pro
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1646A>C
  hgvsp: ENSP00000425344.1:p.Thr550Pro
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2778A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2778A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5035A>C
  hgvsp: ENSP00000426064.1:p.Thr1679Pro
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr1679Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/4-48549646-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549646
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549646
    reference: chr 4
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2784G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2784G>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5029G>T
  hgvsp: ENSP00000426064.1:p.Val1677Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1640G>T
  hgvsp: ENSP00000425344.1:p.Val548Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5029G>T
  hgvsp: ENSP00000351113.4:p.Val1677Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5029G>T
  hgvsp: ENSP00000441114.1:p.Val1677Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.584G>T
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1677Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

4-48549659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549659
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549659
    reference: chr 4
allele count: 3
allele frequency: 2.493060980271577e-5
allele num: 120334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2797T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5016T>C
  hgvsp: ENST00000358350.4:c.5016T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5016T>C
  hgvsp: ENST00000503238.1:c.5016T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.571T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5016T>C
  hgvsp: ENST00000537810.1:c.5016T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2797T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1627T>C
  hgvsp: ENST00000514617.1:c.1627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe1672Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

4-48549669-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549669
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549669
    reference: chr 4
allele count: 8
allele frequency: 6.646947389411413e-5
allele num: 120356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5006A>G
  hgvsp: ENSP00000426064.1:p.Asn1669Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5006A>G
  hgvsp: ENSP00000351113.4:p.Asn1669Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.561A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1617A>G
  hgvsp: ENSP00000425344.1:p.Asn540Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5006A>G
  hgvsp: ENSP00000441114.1:p.Asn1669Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2807A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2807A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn1669Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

4-48549674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549674
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549674
    reference: chr 4
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.5001C>T
  hgvsp: ENST00000537810.1:c.5001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2812C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.5001C>T
  hgvsp: ENST00000358350.4:c.5001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.556C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2812C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.5001C>T
  hgvsp: ENST00000503238.1:c.5001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1612C>T
  hgvsp: ENST00000514617.1:c.1612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1667Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

4-48549674-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549674
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549671
    reference: chr 4
allele count: 5
allele frequency: 4.153720903185073e-5
allele num: 120374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.553_555delTCT
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4998_5000delTCT
  hgvsp: ENSP00000441114.1:p.Leu1667del
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4998_5000delTCT
  hgvsp: ENSP00000351113.4:p.Leu1667del
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2815_-2813delTCT
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2815_-2813delTCT
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1609_1611delTCT
  hgvsp: ENSP00000425344.1:p.Leu538del
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4998_5000delTCT
  hgvsp: ENSP00000426064.1:p.Leu1667del
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1667del
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: GAGA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

4-48549681-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549681
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549681
    reference: chr 4
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4994T>A
  hgvsp: ENSP00000426064.1:p.Val1665Asp
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.549T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1605T>A
  hgvsp: ENSP00000425344.1:p.Val536Asp
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4994T>A
  hgvsp: ENSP00000441114.1:p.Val1665Asp
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4994T>A
  hgvsp: ENSP00000351113.4:p.Val1665Asp
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2819T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2819T>A
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val1665Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

4-48549696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549696
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549696
    reference: chr 4
allele count: 3
allele frequency: 2.491735743118657e-5
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1590G>A
  hgvsp: ENSP00000425344.1:p.Arg531Gln
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4979G>A
  hgvsp: ENSP00000441114.1:p.Arg1660Gln
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2834G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4979G>A
  hgvsp: ENSP00000351113.4:p.Arg1660Gln
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4979G>A
  hgvsp: ENSP00000426064.1:p.Arg1660Gln
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.534G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2834G>A
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1660Gln
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-48549697-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549697
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549697
    reference: chr 4
allele count: 1
allele frequency: 8.305233958440609e-6
allele num: 120406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.533C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4978C>A
  hgvsp: ENST00000537810.1:c.4978C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1589C>A
  hgvsp: ENST00000514617.1:c.1589C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4978C>A
  hgvsp: ENST00000358350.4:c.4978C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4978C>A
  hgvsp: ENST00000503238.1:c.4978C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2835C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2835C>A
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1660Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

4-48549701-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549701
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549701
    reference: chr 4
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4974C>A
  hgvsp: ENSP00000441114.1:p.Asn1658Lys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.529C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4974C>A
  hgvsp: ENSP00000426064.1:p.Asn1658Lys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2839C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2839C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4974C>A
  hgvsp: ENSP00000351113.4:p.Asn1658Lys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1585C>A
  hgvsp: ENSP00000425344.1:p.Asn529Lys
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn1658Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-48549702-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549702
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549702
    reference: chr 4
allele count: 3
allele frequency: 2.491404653943893e-5
allele num: 120414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4973A>G
  hgvsp: ENSP00000426064.1:p.Asn1658Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4973A>G
  hgvsp: ENSP00000351113.4:p.Asn1658Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1584A>G
  hgvsp: ENSP00000425344.1:p.Asn529Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2840A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4973A>G
  hgvsp: ENSP00000441114.1:p.Asn1658Ser
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2840A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.528A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn1658Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

4-48549706-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549706
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549706
    reference: chr 4
allele count: 2
allele frequency: 1.660743348722888e-5
allele num: 120428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4969A>G
  hgvsp: ENSP00000441114.1:p.Ser1657Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4969A>G
  hgvsp: ENSP00000351113.4:p.Ser1657Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2844A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1580A>G
  hgvsp: ENSP00000425344.1:p.Ser528Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2844A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4969A>G
  hgvsp: ENSP00000426064.1:p.Ser1657Gly
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.524A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1657Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

4-48549707-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549707
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549707
    reference: chr 4
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2845T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4968T>C
  hgvsp: ENST00000503238.1:c.4968T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4968T>C
  hgvsp: ENST00000358350.4:c.4968T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4968T>C
  hgvsp: ENST00000537810.1:c.4968T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.523T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2845T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1579T>C
  hgvsp: ENST00000514617.1:c.1579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1656Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

4-48549711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549711
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549711
    reference: chr 4
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4964C>T
  hgvsp: ENSP00000426064.1:p.Pro1655Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4964C>T
  hgvsp: ENSP00000441114.1:p.Pro1655Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2849C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4964C>T
  hgvsp: ENSP00000351113.4:p.Pro1655Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2849C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1575C>T
  hgvsp: ENSP00000425344.1:p.Pro526Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.519C>T
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro1655Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-48549741-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549741
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549741
    reference: chr 4
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2879T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4934T>G
  hgvsp: ENSP00000441114.1:p.Leu1645Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4934T>G
  hgvsp: ENSP00000351113.4:p.Leu1645Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1545T>G
  hgvsp: ENSP00000425344.1:p.Leu516Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4934T>G
  hgvsp: ENSP00000426064.1:p.Leu1645Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.489T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2879T>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1645Arg
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

4-48549744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549744
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549744
    reference: chr 4
allele count: 2
allele frequency: 1.6632569898375e-5
allele num: 120246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2882G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4931G>A
  hgvsp: ENSP00000441114.1:p.Arg1644His
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4931G>A
  hgvsp: ENSP00000351113.4:p.Arg1644His
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2882G>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4931G>A
  hgvsp: ENSP00000426064.1:p.Arg1644His
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1542G>A
  hgvsp: ENSP00000425344.1:p.Arg515His
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.486G>A
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1644His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

4-48549745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549745
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549745
    reference: chr 4
allele count: 18
allele frequency: 1.497329761924568e-4
allele num: 120214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2883C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4930C>T
  hgvsp: ENSP00000441114.1:p.Arg1644Cys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4930C>T
  hgvsp: ENSP00000351113.4:p.Arg1644Cys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1541C>T
  hgvsp: ENSP00000425344.1:p.Arg515Cys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4930C>T
  hgvsp: ENSP00000426064.1:p.Arg1644Cys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.485C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2883C>T
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg1644Cys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-48549753-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549753
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549753
    reference: chr 4
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1533A>G
  hgvsp: ENSP00000425344.1:p.His512Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4922A>G
  hgvsp: ENSP00000426064.1:p.His1641Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.477A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2891A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4922A>G
  hgvsp: ENSP00000351113.4:p.His1641Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4922A>G
  hgvsp: ENSP00000441114.1:p.His1641Arg
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2891A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His1641Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-48549759-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549759
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549759
    reference: chr 4
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4916A>T
  hgvsp: ENSP00000351113.4:p.Tyr1639Phe
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2897A>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2897A>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4916A>T
  hgvsp: ENSP00000441114.1:p.Tyr1639Phe
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1527A>T
  hgvsp: ENSP00000425344.1:p.Tyr510Phe
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.471A>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4916A>T
  hgvsp: ENSP00000426064.1:p.Tyr1639Phe
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr1639Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

4-48549759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549759
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549759
    reference: chr 4
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4916A>G
  hgvsp: ENSP00000441114.1:p.Tyr1639Cys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2897A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1527A>G
  hgvsp: ENSP00000425344.1:p.Tyr510Cys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4916A>G
  hgvsp: ENSP00000351113.4:p.Tyr1639Cys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4916A>G
  hgvsp: ENSP00000426064.1:p.Tyr1639Cys
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2897A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.471A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr1639Cys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

4-48549761-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549761
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549761
    reference: chr 4
allele count: 2
allele frequency: 1.670927531872943e-5
allele num: 119694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1525G>C
  hgvsp: ENST00000514617.1:c.1525G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4914G>C
  hgvsp: ENST00000537810.1:c.4914G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4914G>C
  hgvsp: ENST00000503238.1:c.4914G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2899G>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2899G>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4914G>C
  hgvsp: ENST00000358350.4:c.4914G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.469G>C
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1638Val
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-48549773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549773
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549773
    reference: chr 4
allele count: 1
allele frequency: 8.426445556735258e-6
allele num: 118674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4902C>T
  hgvsp: ENST00000537810.1:c.4902C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2911C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4902C>T
  hgvsp: ENST00000503238.1:c.4902C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1513C>T
  hgvsp: ENST00000514617.1:c.1513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.457C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4902C>T
  hgvsp: ENST00000358350.4:c.4902C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2911C>T
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys1634Cys
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: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

4-48549784-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549784
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549784
    reference: chr 4
allele count: 2
allele frequency: 1.705000767250345e-5
allele num: 117302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4891T>C
  hgvsp: ENSP00000426064.1:p.Phe1631Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2922T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2922T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4891T>C
  hgvsp: ENSP00000351113.4:p.Phe1631Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1502T>C
  hgvsp: ENSP00000425344.1:p.Phe502Leu
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.446T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4891T>C
  hgvsp: ENSP00000441114.1:p.Phe1631Leu
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe1631Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

4-48549795-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549795
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549795
    reference: chr 4
allele count: 4
allele frequency: 3.489853251670767e-5
allele num: 114618
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4889-9C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4889-9C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1500-9C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2924-9C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.444-9C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2924-9C>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4889-9C>A
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

4-48549797-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549797
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549797
    reference: chr 4
allele count: 1
allele frequency: 8.741105924721597e-6
allele num: 114402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4889-11A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1500-11A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2924-11A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4889-11A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.444-11A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2924-11A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4889-11A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41383
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

4-48549798-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549798
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549798
    reference: chr 4
allele count: 1
allele frequency: 8.761631065239105e-6
allele num: 114134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4889-12T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2924-12T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4889-12T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1500-12T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4889-12T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.444-12T>A
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2924-12T>A
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34518
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

4-48549800-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549800
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549800
    reference: chr 4
allele count: 1
allele frequency: 8.82347750895583e-6
allele num: 113334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1500-14A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4889-14A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4889-14A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2924-14A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2924-14A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4889-14A>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.444-14A>C
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

4-48549803-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549803
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549803
    reference: chr 4
allele count: 1
allele frequency: 8.861006255870417e-6
allele num: 112854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1500-17T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4889-17T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.444-17T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2924-17T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4889-17T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4889-17T>C
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2924-17T>C
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  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: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-48549806-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549806
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549806
    reference: chr 4
allele count: 7
allele frequency: 6.255808965467934e-5
allele num: 111896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2924-20T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.444-20T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4889-20T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4889-20T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1500-20T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2924-20T>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4889-20T>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28800
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

4-48549810-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549810
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549810
    reference: chr 4
allele count: 2
allele frequency: 1.799240720415984e-5
allele num: 111158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.444-24A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4889-24A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4889-24A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4889-24A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2924-24A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1500-24A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2924-24A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

4-48549823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549823
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549823
    reference: chr 4
allele count: 1
allele frequency: 9.358914365933552e-6
allele num: 106850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4889-37C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.444-37C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2924-37C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2924-37C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4889-37C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1500-37C>T
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4889-37C>T
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15835
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

4-48549827-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48549827
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 48549827
    reference: chr 4
allele count: 1
allele frequency: 9.470055683927422e-6
allele num: 105596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000264319
  ensembl transcript: ENST00000264319
  gene symbol: FRYL
  hgvsc: ENST00000264319.7:c.-2924-41A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000425344
  ensembl transcript: ENST00000514617
  gene symbol: FRYL
  hgvsc: ENST00000514617.1:c.1500-41A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000441114
  ensembl transcript: ENST00000537810
  gene symbol: FRYL
  hgvsc: ENST00000537810.1:c.4889-41A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000351113
  ensembl transcript: ENST00000358350
  gene symbol: FRYL
  hgvsc: ENST00000358350.4:c.4889-41A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl transcript: ENST00000502925
  gene symbol: FRYL
  hgvsc: ENST00000502925.1:n.444-41A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000426064
  ensembl transcript: ENST00000503238
  gene symbol: FRYL
  hgvsc: ENST00000503238.1:c.4889-41A>G
  variant of: http://identifiers.org/hgnc/29127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000075539
  ensembl protein: ENSP00000422408
  ensembl transcript: ENST00000507873
  gene symbol: FRYL
  hgvsc: ENST00000507873.2:c.-2924-41A>G
  variant of: http://identifiers.org/hgnc/29127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 2001
bin: 9.75e1
variant carriers: 93

GenotypeQuality
all individuals: 653
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.772771384999307e-4
allele num: 14426
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.089324618736383e-4
allele num: 9180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 83
allele frequency: 1.36257674754572e-3
allele num: 60914
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.450980392156863e-3
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.889616644191871e-4
allele num: 10382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.952e0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

DP
type: SiteQuality
SIO_000300: 1.352522e6

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

GenotypeQuality
all individuals: 402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46717
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564945226917058e-5
allele num: 63900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15248
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.574307304785894e-4
allele num: 6352
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

DP
type: SiteQuality
SIO_000300: 1.41485e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

GenotypeQuality
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 419
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11068
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.409434687860531e-5
allele num: 15602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.414e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.435522e6

FS
type: SiteQuality
SIO_000300: 4.579e0

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 10

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.160599126274183e-4
allele num: 9614
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.705139765554554e-4
allele num: 11090
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.18427285646613e-4
allele num: 8444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.072385400024579e-5
allele num: 65096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.439161e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531534291052777e-5
allele num: 65294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.994423457456377e-5
allele num: 11118
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

QD
type: SiteQuality
SIO_000300: 1.716e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

VQSLOD
type: SiteQuality
SIO_000300: -2.806e-1

DP
type: SiteQuality
SIO_000300: 1.444375e6

GenotypeQuality
all individuals: 46621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
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variant carriers: 0

GenotypeQuality
all individuals: 3422
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529472943623627e-5
allele num: 65382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.911e0

FS
type: SiteQuality
SIO_000300: 3.393e0

DP
type: SiteQuality
SIO_000300: 1.447513e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-1

QD
type: SiteQuality
SIO_000300: 1.769e1

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 555
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 361
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variant carriers: 0

GenotypeQuality
all individuals: 132
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GenotypeQuality
all individuals: 461
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GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 680
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variant carriers: 0

GenotypeQuality
all individuals: 1914
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65514
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

DP
type: SiteQuality
SIO_000300: 1.452953e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

VQSLOD
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47843
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variant carriers: 0

GenotypeQuality
all individuals: 27
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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
all individuals: 296
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variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524994662518681e-5
allele num: 65574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.453985e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.212e1

GenotypeQuality
all individuals: 567
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 350
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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: 47880
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GenotypeQuality
all individuals: 477
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.059732234809475e-4
allele num: 9710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522394421946838e-5
allele num: 65686
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

DP
type: SiteQuality
SIO_000300: 1.458278e6

FS
type: SiteQuality
SIO_000300: 1.302e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.868e1

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 441
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variant carriers: 0

GenotypeQuality
all individuals: 296
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.058460271716756e-4
allele num: 9716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521560512461581e-5
allele num: 65722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e-1

DP
type: SiteQuality
SIO_000300: 1.461579e6

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.204e0

QD
type: SiteQuality
SIO_000300: 1.548e1

GenotypeQuality
all individuals: 384
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variant carriers: 0

GenotypeQuality
all individuals: 1231
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 574
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GenotypeQuality
all individuals: 755
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.029442042413012e-4
allele num: 9714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.464859e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.375e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

GenotypeQuality
all individuals: 212
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variant carriers: 0

GenotypeQuality
all individuals: 167
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 456
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GenotypeQuality
all individuals: 3509
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.167509559639817e-5
allele num: 16214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

FS
type: SiteQuality
SIO_000300: 1.971e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
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SIO_000300: 1.47015e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.452e0

QD
type: SiteQuality
SIO_000300: 1.588e1

MQ
type: SiteQuality
SIO_000300: 5.487e1

VQSLOD
type: SiteQuality
SIO_000300: -8.903e-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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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516438189979376e-5
allele num: 65944
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.543e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

DP
type: SiteQuality
SIO_000300: 1.474955e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516898246465627e-5
allele num: 65924
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

InbreedingCoeff
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FS
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.475699e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 7.97e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.871e0

DP
type: SiteQuality
SIO_000300: 1.475822e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.86e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 112
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.533742331288344e-4
allele num: 6520
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65840
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.08e1

FS
type: SiteQuality
SIO_000300: 3.794e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.083e0

DP
type: SiteQuality
SIO_000300: 1.476341e6

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

GenotypeQuality
all individuals: 1862
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.185822095756526e-5
allele num: 16166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.531065315246348e-5
allele num: 65314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.546e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9646
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535390756947643e-5
allele num: 65130
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16116
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FS
type: SiteQuality
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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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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63014
num of homozygotes: 0

African
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allele count: 42
allele frequency: 4.488138491130583e-3
allele num: 9358
num of homozygotes: 0

Latino
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allele frequency: 5.398596364945115e-4
allele num: 11114
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8086
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6386
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Other
type: Population
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South Asian
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ClippingRankSum
type: SiteQuality
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QD
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VQSLOD
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MQRankSum
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

East Asian
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allele frequency: 7.606490872210953e-4
allele num: 7888
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61892
num of homozygotes: 0

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

Latino
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allele num: 10952
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7170
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.718154015325934e-5
allele num: 58202
num of homozygotes: 0

Other
type: Population
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allele num: 812
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1899
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.394700139470014e-4
allele num: 7170
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58202
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.196108e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.394e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-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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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
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allele frequency: 1.228501228501228e-3
allele num: 814
num of homozygotes: 0

European (Finnish)
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allele count: 11
allele frequency: 1.806833114323259e-3
allele num: 6088
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.452800220979214e-5
allele num: 57924
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 14404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 3.647e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 1.181784e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.327e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 7022
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 798
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10096
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.748740906547286e-5
allele num: 57184
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6060
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

DP
type: SiteQuality
SIO_000300: 1.132453e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10088
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7020
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.499195185107426e-5
allele num: 57156
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14214
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.1319e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.512e0

QD
type: SiteQuality
SIO_000300: 1.316e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5982
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.231703789412785e-5
allele num: 13828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.803101334294987e-5
allele num: 55460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.13e-1

DP
type: SiteQuality
SIO_000300: 1.049346e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

QD
type: SiteQuality
SIO_000300: 7.68e0

VQSLOD
type: SiteQuality
SIO_000300: -6.625e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 390
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GenotypeQuality
all individuals: 376
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.825017337664708e-5
allele num: 54794
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

DP
type: SiteQuality
SIO_000300: 1.016743e6

QD
type: SiteQuality
SIO_000300: 1.494e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.65e-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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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.419498441905327e-5
allele num: 13478
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5942
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.039e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.857907253269917e-5
allele num: 53824
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8098
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5918
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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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FS
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

East Asian
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African
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allele frequency: 1.250625312656328e-4
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.68314e5

FS
type: SiteQuality
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.025439520375922e-5
allele num: 49372
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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African
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South Asian
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East Asian
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Other
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 9.25642e5

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.391e-1

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3002
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6705
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6964
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.520878811351314e-5
allele num: 56804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.193867773874162e-4
allele num: 6262
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10726
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7194
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 1.341e0

QD
type: SiteQuality
SIO_000300: 1.619e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.865e-1

DP
type: SiteQuality
SIO_000300: 1.070652e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 881
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6903
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 352
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56838
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.5486160397445e-4
allele num: 8454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10736
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

QD
type: SiteQuality
SIO_000300: 1.67e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.103e0

DP
type: SiteQuality
SIO_000300: 1.078895e6

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 358
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.862005077883757e-5
allele num: 58292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.023e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.937e0

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 3.935e0

DP
type: SiteQuality
SIO_000300: 1.209828e6

GenotypeQuality
all individuals: 3423
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.154696314869189e-4
allele num: 60622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.29705e6

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.046e0

QD
type: SiteQuality
SIO_000300: 1.478e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
all individuals: 364
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.095530236634531e-4
allele num: 9128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61466
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.322384e6

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1317
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 404
allele frequency: 4.745125675358233e-2
allele num: 8514
num of homozygotes: 10

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.903600464576074e-4
allele num: 65436
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 7.071226536384675e-4
allele num: 15556
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.65e-2

DP
type: SiteQuality
SIO_000300: 1.437682e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

FS
type: SiteQuality
SIO_000300: 2.208e0

QD
type: SiteQuality
SIO_000300: 1.473e1

GenotypeQuality
all individuals: 1197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 585
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variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52545992616774e-5
allele num: 65554
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.063983488132095e-4
allele num: 9690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15656
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.025e0

QD
type: SiteQuality
SIO_000300: 1.351e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

FS
type: SiteQuality
SIO_000300: 1.5259e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.432504e6

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50234
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.11545988258317e-5
allele num: 16352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.051647581210563e-3
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 5.83e-1

DP
type: SiteQuality
SIO_000300: 1.452694e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

GenotypeQuality
all individuals: 4331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023751023751024e-4
allele num: 9768
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.455854e6

VQSLOD
type: SiteQuality
SIO_000300: -1.598e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.964e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.644e0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 257
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

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

InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.456466e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9776
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66524
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11486
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South Asian
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allele frequency: 1.819725827975252e-4
allele num: 16486
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8580
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African
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
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SIO_000300: 4.302e0

ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.458943e6

QD
type: SiteQuality
SIO_000300: 1.129e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.202067556196658e-4
allele num: 66552
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Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.858e1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.459968e6

FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-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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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.064281382656155e-5
allele num: 16490
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 5.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

DP
type: SiteQuality
SIO_000300: 1.460534e6

MQ
type: SiteQuality
SIO_000300: 5.744e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

MQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9788
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East Asian
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allele frequency: 5.83158385817588e-4
allele num: 8574
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66554
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.460534e6

ReadPosRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

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

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.063545961678389e-5
allele num: 16492
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East Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 898
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66578
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African
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.65e-1

BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.00390507659958e-5
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Latino
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allele num: 11480
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East Asian
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European (Finnish)
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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Latino
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African
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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East Asian
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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DP
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QD
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SIO_000300: 1.554e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

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

GenotypeQuality
all individuals: 1954
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 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: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

FS
type: SiteQuality
SIO_000300: 1.081e0

QD
type: SiteQuality
SIO_000300: 1.281e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

DP
type: SiteQuality
SIO_000300: 1.461366e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 911
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GenotypeQuality
all individuals: 50603
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003724618526973e-5
allele num: 66584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 6.534e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.053e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.461655e6

GenotypeQuality
all individuals: 985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1952
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
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: 11498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e0

VQSLOD
type: SiteQuality
SIO_000300: -5.222e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.461537e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

QD
type: SiteQuality
SIO_000300: 1.73e1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 50600
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.533e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.461742e6

QD
type: SiteQuality
SIO_000300: 1.823e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.772e0

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

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 575
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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: 12
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variant carriers: 0

GenotypeQuality
all individuals: 369
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variant carriers: 0

GenotypeQuality
all individuals: 50405
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variant carriers: 0

GenotypeQuality
all individuals: 1951
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variant carriers: 1

GenotypeQuality
all individuals: 980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 1.460175e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.357e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.152e1

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 978
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 50336
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006976184748617e-5
allele num: 66512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.045e1

MQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.073e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.89e-1

DP
type: SiteQuality
SIO_000300: 1.460049e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

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

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 367
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GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 4335
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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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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.044153720359771e-4
allele num: 9784
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.353342756608824e-4
allele num: 66502
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.084840055632823e-4
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

FS
type: SiteQuality
SIO_000300: 1.142e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

DP
type: SiteQuality
SIO_000300: 1.460043e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 971
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variant carriers: 0

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

GenotypeQuality
all individuals: 1950
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.13e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.456846e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
all individuals: 366
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.19348445435402e-5
allele num: 16146
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.453549e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.049e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 900
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variant carriers: 0

GenotypeQuality
all individuals: 366
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506841058405159e-5
allele num: 66364
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

FS
type: SiteQuality
SIO_000300: 9.55e-1

DP
type: SiteQuality
SIO_000300: 1.453549e6

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

GenotypeQuality
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bin: 2.25e1
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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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.046663937781416e-4
allele num: 9772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.45241e6

QD
type: SiteQuality
SIO_000300: 1.032e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.847e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.271e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 1.436243e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.34390538906061e-4
allele num: 14882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65394
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 1.509e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.411715e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

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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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64210
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.884754074715131e-4
allele num: 13866
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.136e0

QD
type: SiteQuality
SIO_000300: 1.199e1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

DP
type: SiteQuality
SIO_000300: 1.358754e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 4.848e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 805
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559721745640578e-5
allele num: 64114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.257e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.02e-1

QD
type: SiteQuality
SIO_000300: 1.654e1

DP
type: SiteQuality
SIO_000300: 1.353069e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.301401869158878e-5
allele num: 13696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.095e0

DP
type: SiteQuality
SIO_000300: 1.34707e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.643e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.397e0

QD
type: SiteQuality
SIO_000300: 1.983e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.448234768359899e-5
allele num: 13426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.78e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

MQ
type: SiteQuality
SIO_000300: 3.612e1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

DP
type: SiteQuality
SIO_000300: 1.328481e6

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
all individuals: 209
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576690211907164e-5
allele num: 63424
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.733e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.310887e6

FS
type: SiteQuality
SIO_000300: 6.994e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.232e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 359
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GenotypeQuality
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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: 1954
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variant carriers: 7

GenotypeQuality
all individuals: 3371
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12994
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588511882068878e-5
allele num: 62952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.264978381717109e-4
allele num: 6476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2769
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10198
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596322073941639e-5
allele num: 62644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.874015748031496e-5
allele num: 12700
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.245073e6

MQRankSum
type: SiteQuality
SIO_000300: 5.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.485e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.52e-1

GenotypeQuality
all individuals: 10427
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17821
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.646090534979424e-5
allele num: 60750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.382e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.127708e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.912e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.244e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0